Last Posted: Apr 17, 2024
Latest News and Publications
Pulmonary alveolar proteinosis following severe COVID - 19 infection: A case report.
Martin Samina, et al. Respiratory medicine case reports 2024 0 0. 102017
COVID-19 in a patient with Good's syndrome and in 13 patients with common variable immunodeficiency.
Lindahl Hannes, et al. Clinical immunology communications 2024 0 0. 20-24
Pharmacokinetics of convalescent plasma therapy in a COVID-19 patient with X-linked Agammaglobulinemia.
Yates Jennifer L, et al. Clinical immunology communications 2024 0 0. 57-61
Diffuse alveolar haemorrhage due to atypical hemolytic uremic syndrome (aHUS) associated with COVID-19.
Siddiqui Atif, et al. Respirology case reports 2024 0 0. (4) e01350
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93
A single-center experience of COVID-19 infection in patients with primary immunodeficiency.
Zhou Jessie J, et al. The journal of allergy and clinical immunology. Global 2024 0 0. (2) 100241
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report.
McDonnell John, et al. Journal of clinical immunology 2024 0 0. (4) 86
Immunoglobulin G4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.
García-Solís Blanca, et al. The Journal of allergy and clinical immunology 2024 0 0.
COVID-19 and vaccination in hereditary angioedema: Single center experience.
Özdemir Öner, et al. The World Allergy Organization journal 2024 0 0. (4) 100892
"Stuck in pandemic uncertainty: A review of the persistent Effects of COVID-19 infection in immune deficient people".
Manuelpillai Bevin, et al. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2024 0 0.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine response in adults with predominantly antibody deficiency.
Zhang Anna M, et al. The journal of allergy and clinical immunology. Global 2024 0 0. (2) 100234
The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review.
Al-Hakim Adam, et al. Journal of clinical medicine 2024 0 0. (6)
Letter to the Editor Regarding "Antibody Production after COVID-19 Vaccination in Patients with Inborn Errors of Immunity".
Deshpande Nitin, et al. Iranian journal of immunology : IJI 2024 0 0. (1) 101-102
Pre-existing Immunocompromising Conditions and Outcomes of Acute COVID-19 Patients Admitted for Pediatric Intensive Care.
Rowan Courtney M, et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2024 0 0.
Baseline immune status and the effectiveness of response to enteral nutrition among ICU patients with COVID-19: An observational, retrospective study.
Yin Yao, et al. Nutrition (Burbank, Los Angeles County, Calif.) 2024 0 0. 112387
Clinical and genomic evaluations of a persistent fatal SARS-CoV-2 infection in a goods syndrome patient: a case report.
Tabarsi Payam, et al. BMC infectious diseases 2024 0 0. (1) 216
Relapse of COVID-19 and Viral Evolution in a Patient With Good Syndrome: A Case Report.
Iwasaki Mika, et al. Cureus 2024 0 0. (1) e52592
Immune responses to SARS-CoV-2 mRNA vaccination in people with idiopathic CD4 lymphopenia.
Rocco Joseph M, et al. The Journal of allergy and clinical immunology 2024 0 0. (2) 503-512
Low Percentage of Perforin-Expressing NK Cells during Severe SARS-CoV-2 Infection: Consumption Rather than Primary Deficiency.
Kundura Lucy, et al. Journal of immunology (Baltimore, Md. : 1950) 2024 0 0.
Expanded specific T cells to hypomutated regions of the SARS-CoV-2 using mRNA electroporated antigen-presenting cells.
Ogando-Rivas Elizabeth, et al. Molecular therapy. Methods & clinical development 2024 0 0. (1) 101192
High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study.
Villa Annalisa, et al. Journal of clinical immunology 2024 0 0. (2) 59
Stability of gut microbiome after COVID-19 vaccination in healthy and immuno-compromised individuals.
Boston Rebecca H, et al. Life science alliance 2024 0 0. (4)
Host transcriptomics and machine learning for secondary bacterial infections in patients with COVID-19: a prospective, observational cohort study.
Carney Meagan, et al. The Lancet. Microbe 2024 0 0.
Coronavirus Disease-2019 in the Immunocompromised Host.
Bertini Christopher D, et al. Infectious disease clinics of North America 2024 0 0. (1) 213-228
Characteristics and outcomes of patients enrolled in the Connect 360 benralizumab patient support programme in the UK: a retrospective cohort study.
Morris Tamsin, et al. BMJ open respiratory research 2024 0 0. (1)
A Murine Model of Post-acute Neurological Sequelae Following SARS-CoV-2 Variant Infection.
Singh Ankita, et al. bioRxiv : the preprint server for biology 2024 0 0.
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.
Covill L E, et al. Journal of clinical immunology 2024 0 0. (2) 50
Human genetic determinants of COVID-19 in Brazil: challenges and future plans.
Fam Bibiana S de Oliveira, et al. Genetics and molecular biology 2024 0 0. (3 Suppl 1) e20230128
Assessing the Burden and Cost of COVID-19 Across Variants in Commercially Insured Immunocompromised Populations in the United States: Updated Results and Trends from the Ongoing EPOCH-US Study.
Ketkar Amita, et al. Advances in therapy 2024 0 0.
Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.
Bastard Paul, et al. Immunological reviews 2024 0 0.
Early-onset herpes simplex encephalitis type 1 triggered by COVID-19 disease: A case report.
Inoue Kai, et al. Radiology case reports 2024 0 0. (3) 855-858
Bifocal malakoplakia in a patient living with HIV: case report.
Alsaeed Mohammed, et al. AIDS research and therapy 2024 0 0. (1) 3
Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.
Delmonte Ottavia M, et al. The Journal of allergy and clinical immunology 2023 0 0.
Anti-Interleukin-1 Therapy Does Not Affect the Response to SARS-CoV-2 Vaccination and Infection in Patients with Systemic Autoinflammatory Diseases.
Geck Leonie, et al. Journal of clinical medicine 2023 0 0. (24)
Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses.
Michael Benedict D, et al. Nature communications 2023 0 0. (1) 8487
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
Staines-Boone Aidé Tamara, et al. Journal of clinical immunology 2023 0 0. (1) 20
Humoral and Cell-Mediated Responses to SARS-CoV-2 Vaccination in a Cohort of Immunodeficient Patients.
Plano Federica, et al. Hematology reports 2023 0 0. (4) 707-716
End stage renal disease in patient with microscopic polyangiitis and atypical hemolytic-uremic syndrome arose 3 weeks after the third dose of anti-SARS-CoV2 vaccine mRNA-1273: A case report with literature revision.
Moronti Veronica, et al. Medicine 2023 0 0. (50) e36560
Impact of COVID-19 on immunocompromised populations during the Omicron era: insights from the observational population-based INFORM study.
Evans Rachael A, et al. The Lancet regional health. Europe 2023 0 0. 100747
The spectrum of side effects associated with COVID-19 vaccines in patients with inborn errors of immunity.
Özdemiral Cansu, et al. Clinical immunology (Orlando, Fla.) 2023 0 0. 109878
Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.
Asano Takaki, et al. Immunological reviews 2023 0 0.
The impact of the COVID-19 pandemic on early termination of ophthalmology clinical trials: A cross-sectional analysis of ClinicalTrials.gov.
Kakkilaya Akash, et al. SAGE open medicine 2023 0 0. 20503121231216592
C1 esterase inhibitor-mediated immunosuppression in COVID-19: Friend or foe?
Hausburg Melissa A, et al. Clinical immunology communications 2023 0 0. 83-90
COVID-19 Vaccination Coverage and Factors Influencing Vaccine Hesitancy among Patients with Inborn Errors of Immunity in Latvia: A Mixed-Methods Study.
Lucane Zane, et al. Vaccines 2023 0 0. (11)
The analysis of the effect of the COVID-19 pandemic on patients with hereditary angioedema type I and type II.
Szilágyi Dávid, et al. Scientific reports 2023 0 0. (1) 20446
SARS-CoV-2 vaccination in primary antibody deficiencies: an overview on efficacy, immunogenicity, durability of immune response and safety.
Cusa Gabriella, et al. Current opinion in allergy and clinical immunology 2023 0 0.
SARS-CoV-2 pre-exposure prophylaxis with tixagevimab/cilgavimab (AZD7442) provides protection in inborn errors of immunity with antibody defects: a real-world experience.
Pulvirenti Federica, et al. Frontiers in immunology 2023 0 0. 1249462
Longevity of the humoral and cellular responses after SARS-CoV-2 booster vaccinations in immunocompromised patients.
Oyaert Matthijs, et al. European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology 2023 0 0.
Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center study.
Duan Chuanxin, et al. Orphanet journal of rare diseases 2023 0 0. (1) 353
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer Tom, et al. Nature 2023 0 0.
Lipin-2 regulates the antiviral and anti-inflammatory responses to interferon.
de Pablo Nagore, et al. EMBO reports 2023 0 0. e57238
Resolution of Eosinophilic Pneumonia after Coronavirus Disease 2019 without Systemic Corticosteroids.
Misaki Yumiko, et al. Internal medicine (Tokyo, Japan) 2023 0 0. (21) 3223-3230
Cellular immune response to SARS-CoV-2 in patients with primary antibody deficiencies.
Mizera Dorota, et al. Frontiers in immunology 2023 0 0. 1275892
Decline of gastric cancer mortality in common variable immunodeficiency in the years 2018-2022.
Milito Cinzia, et al. Frontiers in immunology 2023 0 0. 1231242
Speech Telepractice and Treatment Intensity in a Cantonese-Speaking Case with 22q11.2 Deletion Syndrome Following Late Diagnosis and Management of Velopharyngeal Dysfunction.
Pereira Valerie J, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022 0 0. (11) 1505-1512
Antibody Production after COVID-19 Vaccination in Patients with Inborn Errors of Immunity.
Nourizadeh Maryam, et al. Iranian journal of immunology : IJI 2023 0 0. (4)
A rare complication of IgA vasculitis: renal and intestinal ischemia successfully treated with plasmapheresis.
Türkmen Seyma, et al. The Turkish journal of pediatrics 2023 0 0. (5) 868-873
Neurovirulent cytokines increase neuronal excitability in a model of coronavirus-induced neuroinflammation.
Rajayer Salil R, et al. Intensive care medicine experimental 2023 0 0. (1) 71
Anti-Inflammatory and Immunomodulatory Effect of High-Dose Immunoglobulins in Children: From Approved Indications to Off-Label Use.
Conti Francesca, et al. Cells 2023 0 0. (19)
Coronavirus disease 2019-associated thrombotic microangiopathy treated with plasma exchange and antihypertensive therapy in a patient with HIV: A case report with literature review.
Masuda Eriko, et al. Medicine 2023 0 0. (41) e35469
Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.
Chear Chai Teng, et al. Frontiers in immunology 2023 0 0. 1252765
ABX464 (obefazimod) for patients with COVID-19 at risk for severe disease: miR-AGE, a randomized, double-blind placebo-controlled trial.
Giavina-Bianchi Pedro, et al. The journal of allergy and clinical immunology. Global 2023 0 0. (4) 100140
Hospital at Home meets need for new dialysis patients.
Smith Justin, et al. Clinical nephrology 2023 0 0.
Diagnosis of Bone Marrow Necrosis following Severe Vaso-Occlusive Crisis in Patient with Compound Heterozygous Sickle Cell Disease.
Marco Daniel N, et al. Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 2023 0 0. (4) 360-364
Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.
Martínez-Pomar Natalia, et al. Biomedicines 2023 0 0. (9)
Impact of Treatment with Ustekinumab on Severe Infections in a Patient with Uncontrolled Psoriasis and Late-Onset Combined Primary Immunodeficiency: Case Report.
Prestes-Carneiro Luiz Euribel, et al. Pathogens (Basel, Switzerland) 2023 0 0. (9)
Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19.
Khadzhieva Maryam B, et al. Biomolecules 2023 0 0. (9)
Clinical Course, Therapeutic Management and Outcome of Coronavirus Disease in Patients With Inborn Errors of Immunity: A Retrospective Multicenter Experience From Iran.
Karimi Abdollah, et al. The Pediatric infectious disease journal 2023 0 0.
Impact of MyD88 Deficiency on Innate Immune Function in COVID-19 Infection and Allotransplantation.
Lee Stefi F, et al. Transplantation 2023 0 0. (10) 2084-2086
Delayed post-COVID-19 hemophagocytic lymphohistiocytosis in patient with XIAP deficiency.
Chen Jonathan H, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023 0 0. (9) e14028
Patient-physician interactions in hereditary angioedema-Key learnings from the coronavirus disease 2019 pandemic.
Maurer Marcus, et al. Clinical and translational allergy 2023 0 0. (9) e12300
Vaping Associated Acute Eosinophilic Pneumonia: A Clinical and Radiologic Mimicker of COVID-19.
Bonnier Alyssa, et al. Prague medical report 2023 0 0. (3) 283-292
Clinical and immunological outcomes of SARS-CoV-2 infection in patients with inborn errors of immunity receiving different brands and doses of COVID-19 vaccines.
Karabiber Esra, et al. Tuberkuloz ve toraks 2023 0 0. (3) 236-249
Safety and Efficacy of Intramuscular Tixagevimab-Cilgavimab in Prevention of COVID-19 in Patients Who Are Immunocompromised.
Moon Rebecca, et al. The Permanente journal 2023 0 0. 1-11
Vaccination after developing long COVID: impact on clinical presentation, viral persistence and immune responses.
Nayyerabadi Maryam, et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2023 0 0.
Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency.
Maimaris Jesmeen, et al. Journal of clinical immunology 2023 0 0. (7) 1519-1525
Familial Mediterranean fever during and post-COVID-19 pandemic.
Salehzadeh Farhad, et al. Rheumatology international 2023 0 0.
The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study.
Kolambage Yasas D, et al. Orphanet journal of rare diseases 2023 0 0. (1) 279
Impact of different classes of immune-modulating treatments on B cell-related and T cell-related immune response before and after COVID-19 booster vaccination in patients with immune-mediated diseases and primary immunodeficiency: a cohort study.
Koehm Michaela, et al. RMD open 2023 0 0. (3)
Immune responses and safety of COVID-19 vaccination in atypical hemolytic uremic syndrome patients in Taiwan.
Chen I-Ru, et al. Vaccine 2023 0 0.
BNT162b2 Elicited an Efficient Cell-Mediated Response against SARS-CoV-2 in Kidney Transplant Recipients and Common Variable Immunodeficiency Patients.
La Civita Evelina, et al. Viruses 2023 0 0. (8)
Role of the pioneer transcription factor GATA2 in health and disease.
Aktar Amena, et al. Journal of molecular medicine (Berlin, Germany) 2023 0 0.
Trends in the Epidemiology of Pneumocystis Pneumonia in Immunocompromised Patients without HIV Infection.
Xue Ting, et al. Journal of fungi (Basel, Switzerland) 2023 0 0. (8)
Efficient screening strategies for severe combined immunodeficiencies in newborns.
Maartje Blom et al. Expert Rev Mol Diagn 2023 1-11
Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic.
Hoste Levi, et al. Frontiers in pediatrics 2023 0 0. 1210181
Single-cell RNA sequencing and multiple bioinformatics methods to identify the immunity and ferroptosis related biomarkers of SARS-CoV-2 infections to ischemic stroke.
Zhao Xiang, et al. Aging 2023 0 0.
Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
Muthuvel Gajanthan, et al. Hormone research in paediatrics 2023 0 0. 1-8
WASF3 disrupts mitochondrial respiration and may mediate exercise intolerance in myalgic encephalomyelitis/chronic fatigue syndrome.
Wang Ping-Yuan, et al. Proceedings of the National Academy of Sciences of the United States of America 2023 0 0. (34) e2302738120
Response to SARS-CoV-2 initial series and additional dose vaccine in pediatric patients with predominantly antibody deficiency.
Tandon Megha, et al. Frontiers in immunology 2023 0 0. 1217718
Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.
Alhumaid Saad, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2023 0 0. (1) 69
Eosinophilic myocarditis: from etiology to diagnostics and therapy.
Russo Marco, et al. Minerva cardiology and angiology 2023 0 0.
Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies.
Nguyen Alan A, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
SARS-CoV-2 Infection and Response to COVID-19 Vaccination in Patients With Primary Immunodeficiencies.
Paris Robert, et al. The Journal of infectious diseases 2023 0 0. (Supplement_1) S24-S33
A Case Report of Hereditary Angioedema: Challenges in Diagnosis and Management.
Widhani Alvina, et al. Acta medica Indonesiana 2023 0 0. (2) 205-210
Exploring the Immunomodulatory Properties of Stem Cells in Combating COVID-19: Can We Expect More?
Mallis Panagiotis, et al. Bioengineering (Basel, Switzerland) 2023 0 0. (7)
Struggling with COVID-19 in Adult Inborn Errors of Immunity Patients: A Case Series of Combination Therapy and Multiple Lines of Therapy for Selected Patients.
Bez Patrick, et al. Life (Basel, Switzerland) 2023 0 0. (7)
Impaired Seroconversion After Severe Acute Respiratory Syndrome Coronavirus 2 mRNA Vaccine in Patients With Thymic Epithelial Tumors.
Pietroluongo Erica, et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2023 0 0.
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
Granzyme-A deficiency attenuates experimental osteoarthritis in mice, but perforin deficiency does not.
Calvo Jorge, et al. Joint diseases and related surgery 2023 0 0. (2) 271-278
The differential diagnosis value of radiomics-based machine learning in Parkinson's disease: a systematic review and meta-analysis.
Jiaxiang Bian et al. Front Aging Neurosci 2023 151199826
COVID-19 and severe pulmonary alveolar proteinosis (PAP): A case report.
Melhem Ahmad Basim, et al. Heliyon 2023 0 0. (7) e18099
COVID-19 severity: does the genetic landscape of rare variants matter?
Khadzhieva Maryam B, et al. Frontiers in genetics 2023 0 0. 1152768
Real-world assessment of immunogenicity in immunocompromised individuals following SARS-CoV-2 mRNA vaccination: a one-year follow-up of the prospective clinical trial COVAXID.
Chen Puran, et al. EBioMedicine 2023 0 0. 104700
New-onset and relapsed thrombotic microangiopathy post-COVID-19 vaccination.
Ma Qiqi, et al. Journal of medical virology 2023 0 0. (7) e28946
T Cell Abnormalities in X-Linked Agammaglobulinaemia: an Updated Review.
Chawla Sanchi, et al. Clinical reviews in allergy & immunology 2022 0 0. (1) 31-42
Management and outcome of COVID-19 in CTLA-4 insufficiency.
Ochoa Gonzalez Sebastian, et al. Blood advances 2023 0 0.
Knowledge mapping of COVID-19 and autoimmune diseases: a visual and bibliometric analysis.
Zhang Youao, et al. Clinical and experimental medicine 2023 0 0.
Editorial: Macrophage activation syndrome in children in the era of COVID-19.
Boyarchuk Oksana, et al. Frontiers in pediatrics 2023 0 0. 1222522
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Monica S Thakar et al. Lancet 2023
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade.
Yam-Puc Juan Carlos, et al. Nature communications 2023 0 0. (1) 3292
Vaccination prevents severe COVID-19 outcome in patients with neutralizing type 1 interferon autoantibodies.
Wolff Anette S B, et al. iScience 2023 0 0. (7) 107084
Meeting report: AT workshop 2023-A platform for discussing cutting-edge science in DNA damage signaling, repair, and human disorders.
Takata Minoru, et al. Genes to cells : devoted to molecular & cellular mechanisms 2023 0 0.
SARS-CoV-2 intrahost evolution in immunocompromised patients in comparison with immunocompetent populations after treatment.
Ahmadi Akram Sadat, et al. Journal of medical virology 2023 0 0. (6) e28877
Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Sevim Busra Korkmaz et al. Int J Immunogenet 2023
Efficacy of COVID-19 mRNA vaccination in patients with autoimmune disorders: humoral and cellular immune response.
Filippini Federica, et al. BMC medicine 2023 0 0. (1) 210
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters.
Piano Mortari Eva, et al. Frontiers in immunology 2023 0 0. 1194225
Genetic Determinants of the Acute Respiratory Distress Syndrome.
Suarez-Pajes Eva, et al. Journal of clinical medicine 2023 0 0. (11)
Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021
CDC Visual Abstracts, June 2023
Impact of COVID-19 Pandemic on Clinical Care of Patients and Psychosocial Health of Affected Families with Chronic Granulomatous Disease: an Observational Study from North India.
Vignesh Pandiarajan, et al. Journal of clinical immunology 2023 0 0.
Prolonged Disease Course of COVID-19 in a Patient with CTLA-4 Haploinsufficiency.
Hoffman T W, et al. Case reports in immunology 2023 0 0. 3977739
[Role of Complement in Kidney Diseases - New Aspects].
Zipfel Peter F, et al. Deutsche medizinische Wochenschrift (1946) 2023 0 0. (12) 774-779
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia.
Guèye Mame Sokhna, et al. Journal of clinical immunology 2023 0 0.
Pneumocystis jirovecii and SARS-CoV-2 Coinfection as Presentation of X-linked Severe Combined Immunodeficiency.
Toledano-Revenga Javier, et al. Indian journal of pediatrics 2023 0 0.
Association of Inborn Errors of Immunity with Severe COVID-19 and Post-acute Sequelae of COVID-19.
Farmer Jocelyn R, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
Cytokine Response Following SARS-CoV-2 Antigen Stimulation in Patients with Predominantly Antibody Deficiencies.
Lucane Zane, et al. Viruses 2023 0 0. (5)
Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020-August 2021.
Drzymalla Emily, et al. Journal of clinical medicine 2023 0 0. (10)
T cell immunity following COVID-19 vaccination in adult patients with primary antibody deficiency - a 22-month follow-up.
Hurme Antti, et al. Frontiers in immunology 2023 0 0. 1146500
Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity.
van Leeuwen Leanne P M, et al. Journal of clinical immunology 2023 0 0.
COVID-19 Pneumonia with Migratory Pattern in Agammaglobulinemic Patients: A Report of Two Cases and Review of Literature.
Degli Antoni Melania, et al. Tomography (Ann Arbor, Mich.) 2023 0 0. (3) 894-900
Detection of specific RBD IgG memory B cells by flow cytometry in healthcare workers and patients with inborn errors of immunity after BNT162b2 m RNA COVID-19 vaccination.
Del Pino Molina Lucía, et al. Frontiers in immunology 2023 0 0. 1136308
The Evolving Etiological and Epidemiological Portrait of Pericardial Disease.
Reddy Prajwal, et al. The Canadian journal of cardiology 2023 0 0.
TP53 Gain-of-Function and Non-Gain-of-Function Mutations Are Associated With Differential Prognosis in Advanced Pancreatic Ductal Adenocarcinoma.
Minggui Pan et al. JCO Precis Oncol 2023 7e2200570
Specific Cellular and Humoral Immune Responses to the Neoantigen RBD of SARS-CoV-2 in Patients with Primary and Secondary Immunodeficiency and Healthy Donors.
Mohamed Kauzar Mohamed, et al. Biomedicines 2023 0 0. (4)
Cellular immunity in COVID-19 and other infections in Common variable immunodeficiency.
Løken Ragnhild Øye, et al. Frontiers in immunology 2023 0 0. 1124279
Detection of SARS-CoV-2 Antibodies in Immunoglobulin Products.
Cousins Kimberley, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
Common Clinical and Molecular Pathways between Migraine and Sarcoidosis.
Tana Claudio, et al. International journal of molecular sciences 2023 0 0. (9)
[Pre-exposure prophylaxis of new COVID-19 coronavirus infection with tixagevimab/cilgavimab in adult Moscow patients with primary immunodeficiencies].
Roppelt A A, et al. Terapevticheskii arkhiv 2023 0 0. (1) 78-84
Post-COVID-19 Pulmonary Alveolar Proteinosis Treated Successfully with Whole Lung Lavage: A Rare Case Report.
Le-Khac Bao, et al. Pulmonary therapy 2023 0 0.
A Case of Autoimmune Pulmonary Alveolar Proteinosis that Improved after a COVID-19 Episode.
Yanagisawa Atsushi, et al. Internal medicine (Tokyo, Japan) 2023 0 0.
COVID-19 vaccination in patients with primary immunodeficiencies: an international survey on patient vaccine hesitancy and self-reported adverse events.
Pergent Martine, et al. Frontiers in immunology 2023 0 0. 1166198
SARS-CoV-2-induced adrenal crisis in a patient with autoimmune polyglandular syndrome type 1: case report.
Nyagolova Presiyana, et al. Folia medica 2023 0 0. (2) 305-310
Personalized diagnosis in suspected myocardial infarction.
Johannes Tobias Neumann et al. Clin Res Cardiol 2023
COVID-19 infection and vaccination in patients with hereditary angioedema: a multicentric study.
da Costa Farinha I F, et al. European annals of allergy and clinical immunology 2023 0 0.
COVID-19 relapse associated with SARS-CoV-2 evasion from CD4 T-cell recognition in an agammaglobulinemia patient.
Morita Ryo, et al. iScience 2023 0 0. (5) 106685
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency.
Verma Nisha, et al. Journal of clinical immunology 2023 0 0. 1-2
Cellular mechanisms and clinical applications for phenocopies of inborn errors of immunity: infectious susceptibility due to cytokine autoantibodies.
Sun Rui, et al. Expert review of clinical immunology 2023 0 0.
Multicentric Observational Study on Safety and Tolerability of COVID-19 Vaccines in Patients with Angioedema with C1 Inhibitor Deficiency: Data from Italian Network on Hereditary and Acquired Angioedema (ITACA).
Parente Roberta, et al. Vaccines 2023 0 0. (4)
Multifactorial White Matter Damage in the Acute Phase and Pre-Existing Conditions May Drive Cognitive Dysfunction after SARS-CoV-2 Infection: Neuropathology-Based Evidence.
Gelpi Ellen, et al. Viruses 2023 0 0. (4)
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.
Jovanka R King et al. Int J Neonatal Screen 9(2)
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Elizabeth Reynolds et al. J Dev Behav Pediatr
Monkeypox (mpox) in immunosuppressed patients.
Ahmed Sirwan Khalid, et al. F1000Research 2023 0 0. 127
Machine learning-based in-hospital mortality risk prediction tool for intensive care unit patients with heart failure.
Zijun Chen et al. Front Cardiovasc Med 101119699
Case Report: Autoimmune Pulmonary Alveolar Proteinosis after COVID-19: A Report of Two Cases.
Saraswat Aatish, et al. The American journal of tropical medicine and hygiene 0 0 0.
Editorial: Updates on the complement system in kidney diseases.
Bulla Roberta, et al. Frontiers in immunology 0 0 0. 1196487
Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series.
Simard Marie-Lee, et al. Journal of clinical immunology 0 0 0.
Recurrent or unusual infections in children - when to worry about inborn errors of immunity.
Reilly Liam, et al. Therapeutic advances in infectious disease 0 0 0. 20499361231162978
Secondary immunodeficiencies related to the presence of anti-cytokine autoantibodies.
Cortes-Acevedo Paulina, et al. Gaceta medica de Mexico 0 0 0. (2) 154-160
Validity of diagnoses of respiratory diseases recorded in a Japanese administrative database.
Awano Nobuyasu, et al. Respiratory investigation 2023 0 0. (3) 314-320
Hyepereosiniphilic syndrome and COVID-19: 2 case reports.
Sherafati Alborz, et al. Journal of cardiothoracic surgery 0 0 0. (1) 158
Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.
Carrabba Maria, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 0 0 0. (1) 32
Use of Monoclonal Antibodies in a Pediatric Patient With Severe Combined Immunodeficiency and Persistent SARS-CoV-2 Infection.
Bermejo-Gómez Amanda, et al. The Pediatric infectious disease journal 0 0 0.
Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.
López-Nevado Marta, et al. Journal of clinical immunology 0 0 0.
Hemophagocytic Syndrome and COVID-19: A Comprehensive Review.
Fadlallah Mahdi M, et al. Cureus 2023 0 0. (3) e36140
Host genetics and gut microbiota composition: Baseline gut microbiota composition as a possible prognostic factor for the severity of COVID-19 in patients with familial Mediterranean fever disease.
Tsaturyan Vardan, et al. Frontiers in microbiology 2023 0 0. 1107485
SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.
Raphael Allon, et al. Frontiers in immunology 2023 0 0. 1156823
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants.
Lindahl Hannes, et al. Journal of clinical immunology 2023 0 0.
Pitfalls of Thrombotic Microangiopathies in Children: Two Case Reports and Literature Review.
Mocanu Adriana, et al. Diagnostics (Basel, Switzerland) 2023 0 0. (7)
Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.
H Silvén et al. Human reproduction (Oxford, England) 2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.
Gang Peng et al. Molecular genetics & genomic medicine 2023 e2181
Shattering the Mirage: The FDA's Early COVID-19 Pandemic Response Demonstrates a Need for Reform to Restore Agency Credibility.
Fuleihan Christina, et al. American journal of law & medicine 2023 0 0. (4) 307-342
Cellular and humoral immunogenicity of the COVID-19 vaccine and COVID-19 disease severity in individuals with immunodeficiency.
Murray C E, et al. Frontiers in immunology 2023 0 0. 1131604
Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.
Melissa Raspa et al. European journal of human genetics : EJHG 2023 1-7
Explanatory predictive model for COVID-19 severity risk employing machine learning, shapley addition, and LIME.
Laatifi Mariam, et al. Scientific reports 2023 0 0. (1) 5481
Serum amyloid A-A potential therapeutic target for hyper-inflammatory syndrome associated with COVID-19.
Almusalami Eman M, et al. Frontiers in medicine 2023 0 0. 1135695
New Presentation of CD27 Deficiency; Coronary Ectasia and COVID-19.
Golchehre Zahra, et al. Iranian journal of allergy, asthma, and immunology 2023 0 0. (1) 110-118
Defibrotide mitigates endothelial cell injury induced by plasmas from patients with COVID-19 and related vasculopathies.
Elhadad Sonia, et al. Thrombosis research 2023 0 0. 47-56
Efficacy and Safety of Garadacimab in Combination with Standard of Care Treatment in Patients with Severe COVID-19.
Papi Alberto, et al. Lung 2023 0 0.
End-Stage Kidney Disease Resulting from Atypical Hemolytic Uremic Syndrome after Receiving AstraZeneca SARS-CoV-2 Vaccine: A Case Report.
Tawhari Mohammed, et al. Vaccines 2023 0 0. (3)
Viral Vectors in Gene Therapy: Where Do We Stand in 2023?
Lundstrom Kenneth, et al. Viruses 2023 0 0. (3)
Hypereosinophilic Syndrome Following the BNT162b2 (BioNTech/Pfizer) Vaccine Successfully Treated with Mepolizumab: A Case Report and Review of the Literature.
Hoxha Ariela, et al. Journal of clinical medicine 2023 0 0. (6)
Mild COVID-19 in an APECED Patient with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and High Titer of Type 1 IFN-Abs: A Case Report.
Valenzise Mariella, et al. Pathogens (Basel, Switzerland) 2023 0 0. (3)
Favorable outcome of COVID-19 in pediatric patients with primary immunodeficiency.
Garkaby Jenny, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023 0 0. (3) e13928
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol Giorgia, et al. The Journal of clinical investigation 2023 0 0.
SARS-CoV-2 infection in a X-linked agammaglobulinemia adolescent: An immunological approach to treatment.
Stracuzzi Marta, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023 0 0. (3) e13921
Corrigendum: Elevated IFNA1 and suppressed IL12p40 associated with persistent hyperinflammation in COVID-19 pneumonia.
Jeon Kyeongseok, et al. Frontiers in immunology 2023 0 0. 1175767
Editorial: SARS-COV-2 infections within inborn errors of immunity populations.
Hanitsch Leif Gunnar, et al. Frontiers in immunology 2023 0 0. 1164045
IgG3 Antibody Response to COVID-19 Vaccination in a Patient With a Large Heavy Chain Deletion.
Sarkaria Sandeep, et al. Therapeutic advances in allergy and rhinology 2023 0 0. 27534030231156206
Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice
E Drzymalla et al, CDC Blog Post, March 27, 2023
Immunoglobulin repertoire restriction characterises the serological responses of patients with predominant antibody deficiency.
Troelnikov Alexander, et al. The Journal of allergy and clinical immunology 2023 0 0.
Challenges in the Management of Hereditary Angioedema in Urban and Rural Settings: Results of a US Survey.
J Allen Meadows et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023
[Viral diseases of the nervous system-Selected new and old viruses].
Meyding-Lamadé Uta, et al. Der Nervenarzt 2023 0 0.
Case report: Clearance of longstanding, immune-deficiency-associated, vaccine-derived polio virus infection following remdesivir therapy for chronic SARS-CoV-2 infection.
Bermingham William Hywel, et al. Frontiers in immunology 2023 0 0. 1135834
Idiopathic Granulomatous Mastitis as an Unusual Cause of Erythema Nodosum in a Malagasy Woman.
Rakotoarisaona Mendrika Fifaliana, et al. International medical case reports journal 2023 0 0. 159-165
Impaired B Cell Recall Memory and Reduced Antibody Avidity but Robust T Cell Response in CVID Patients After COVID-19 Vaccination.
Steiner Sophie, et al. Journal of clinical immunology 2023 0 0.
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Rafael Tesorero et al. PloS one 2023 18(3) e0283024
Burden of illness seen in hereditary angioedema in Japanese patients: Results from a patient reported outcome survey.
Beverley Yamamoto et al. Intractable & rare diseases research 2023 12(1) 35-44
Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16
MEFV gene mutation spectrum in patients with familial mediterranean fever.
Hsin-Hui Wang et al. Pediatrics and neonatology 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Marta Santiago et al. Cancers 2023 15(5)
Effectiveness of vaccination against SARS-CoV-2 and the need for alternative preventative approaches in immunocompromised individuals: a narrative review of systematic reviews.
Tan Thuan Tong, et al. Expert review of vaccines 2023 0 0.
Human genetic and immunological determinants of SARS-CoV-2 and Epstein-Barr virus diseases in childhood: Insightful contrasts.
Pan-Hammarström Qiang, et al. Journal of internal medicine 2023 0 0.
Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Timothy J Craig et al. Lancet (London, England) 2023
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.
Tatiane Yanes et al. European journal of human genetics : EJHG 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Carsten Speckmann et al. Journal of clinical immunology 2023 1-14
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García Ana, et al. The Journal of experimental medicine 2023 0 0. (5)
A case report of Covid-19 in an autoimmune pulmonary alveolar proteinosis: An association in tune with the times!
Coirier Valentin, et al. Respiratory medicine case reports 2023 0 0. 101825
Case report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED.
Boyarchuk Oksana, et al. Frontiers in pediatrics 2023 0 0. 1086867
Concurrent hypereosinophilic syndrome and deep vein thrombosis after Pfizer-BioNTech COVID-19 vaccination: A case report.
Yano Shungo, et al. Clinical case reports 2023 0 0. (3) e7001
Relapse of atypical hemolytic uremic syndrome triggered by COVID-19: a lesson for the clinical nephrologist.
Uwatoko Ryuta, et al. Journal of nephrology 2023 0 0.
Hereditary Angioedema: Impact of COVID-19 pandemic stress upon disease related morbidity and well-being.
Christiansen Sandra C, et al. Allergy and asthma proceedings 2023 0 0. (2) 115-121
Relapsing COVID-19 infection as a manifestation of Good syndrome: a case report and literature review.
Wee Liang En, et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2023 0 0. 236-239
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity.
Johnson Sarah, et al. Journal of clinical immunology 2023 0 0.
Purpura Fulminans After Varicella Infection and Pulmonary Embolism After COVID-19 Infection in Familial Mediterranean Fever: Coincidence or Not?
Gezgin Yildirim Deniz, et al. Turkish archives of pediatrics 2023 0 0. (2) 234-236
Selective IgA Deficiency and COVID-19.
Magen Eli, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
Immunogenicity and Safety of Anti-SARS-CoV-2 mRNA Vaccines in a Cohort of Patients with Hereditary Angioedema.
Mormile Ilaria, et al. Vaccines 2023 0 0. (2)
Investigation of Neurological Complications after COVID-19 Vaccination: Report of the Clinical Scenarios and Review of the Literature.
Chen Wei-Ping, et al. Vaccines 2023 0 0. (2)
Long-Term Immunological Memory of SARS-CoV-2 Is Present in Patients with Primary Antibody Deficiencies for up to a Year after Vaccination.
Lucane Zane, et al. Vaccines 2023 0 0. (2)
Therapeutic Targeting of Inflammation and Virus Simultaneously Ameliorates Influenza Pneumonia and Protects from Morbidity and Mortality.
Pandey Pratikshya, et al. Viruses 2023 0 0. (2)
A beacon in the dark: COVID-19 course in CVID patients from two European countries: Different approaches, similar outcomes.
Milito Cinzia, et al. Frontiers in immunology 2023 0 0. 1093385
Fatal Puumala Hantavirus Infection in a Patient with Common Variable Immunodeficiency (CVID).
Steininger Philipp, et al. Microorganisms 2023 0 0. (2)
Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children.
Bucciol Giorgia, et al. The Journal of allergy and clinical immunology 2023 0 0.
Hereditary Angioedema with Normal C1 Esterase Inhibitor Refractory to Long-Term Prophylaxis: A Case Report.
Cobb Gavin, et al. Cureus 2023 0 0. (1) e33800
Wastewater surveillance of SARS-CoV-2 variants in October-November 2022 in Italy: Detection of XBB.1, BA.2.75 and rapid spread of the BQ.1 lineage.
G La Rosa et al. The Science of the total environment 2023 2 162339
Elevated IFNA1 and suppressed IL12p40 associated with persistent hyperinflammation in COVID-19 pneumonia.
Jeon Kyeongseok, et al. Frontiers in immunology 2023 0 0. 1101808
Safety and Tolerability of Evusheld in CVID patients: The Mayo Clinic Experience.
Squire Jacqueline D, et al. The journal of allergy and clinical immunology. Global 2023 0 0. 100081
Development of an Effective Immune Response in Adults With Down Syndrome After Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Vaccination.
Esparcia-Pinedo Laura, et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2022 0 0. (3) e155-e162
Hereditary Angioedema with Normal C1 Inhibitor: US Survey of Prevalence and Provider Practice Patterns.
Marc A Riedl et al. The journal of allergy and clinical immunology. In practice 2023
Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity.
García-García Ana, et al. Frontiers in immunology 2023 0 0. 1084630
Disseminated multidrug-resistant tuberculosis and SARS-CoV-2 co-infection in a child with IL-12Rβ1 deficiency.
San-Juan Daniel, et al. The Indian journal of tuberculosis 2023 0 0. (1) 129-133
Antibody and T-cell responses to COVID-19 Vaccination in Common Variable Immunodeficiency and Specific Antibody Deficiency.
Rosenthal Jamie A, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023 0 0.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain Jérémie, et al. Cell 2023 0 0. (3) 621-645.e33
Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report.
Okido Marcos Masaru, et al. Fetal and pediatric pathology 2022 0 0. (1) 131-136
Common variable immunodeficiency with granulomatous-lymphocytic interstitial lung disease treated with monoclonal antibodies against COVID-19: A case report.
Lechner Christian, et al. Clinical case reports 2023 0 0. (1) e6776
Towards real-time monitoring of COVID-19 nosocomial clusters using SARS-CoV-2 genomes in a university hospital of the French Alps.
Gallouche Meghann, et al. Infectious diseases now 2023 0 0. 104650
Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.
Salehzadeh Farhad, et al. Iranian journal of medical sciences 2023 0 0. (1) 43-48
Recombinant GM-CSF for diseases of GM-CSF insufficiency: Correcting dysfunctional mononuclear phagocyte disorders.
Lazarus Hillard M, et al. Frontiers in immunology 2023 0 0. 1069444
Clinical Outcome of Coronavirus Disease 2019 in Patients with Primary Antibody Deficiencies.
Milota Tomas, et al. Pathogens (Basel, Switzerland) 2023 0 0. (1)
Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases.
Massaro Maria Grazia, et al. Vaccines 2023 0 0. (1)
A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain.
Zozaya Néboa et al. Global & regional health technology assessment 2023 914-21
Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.
Pinchevski-Kadir Shiran et al. Pediatric rheumatology online journal 2023 21(1) 4
COVID-19 Convalescent Plasma for the Treatment of Immunocompromised Patients: A Systematic Review and Meta-analysis.
Senefeld Jonathon W, et al. JAMA network open 2023 0 0. (1) e2250647
Eosinophilic pneumonia following Sinovac/CoronaVac vaccination. Comment on "Hypersensitivity reactions to COVID-19 vaccines: a case of eosinophilic pneumonia following Sinovac/CoronaVac vaccination".
Sookaromdee P, et al. European annals of allergy and clinical immunology 2022 0 0. (1) 46
Hypersensitivity reactions to COVID-19 vaccines: a case of Eosinophilic pneumonia following Sinovac/CoronaVac vaccination.
Ozturk A B, et al. European annals of allergy and clinical immunology 2022 0 0. (1) 41-45
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.
Abolhassani Hassan et al. Frontiers in immunology 2023 131032358
Colchicine treatment can be discontinued in a selected group of pediatric FMF patients.
Cohen Keren et al. Pediatric rheumatology online journal 2023 21(1) 2
Consensus on diagnosis and management of Hereditary Angioedema in the Middle East: A Delphi initiative.
Maurer Marcus et al. The World Allergy Organization journal 2023 16(1) 100729
COVID-19 and pulmonary alveolar proteinosis: an unusual combination.
Colares Philippe de Figueiredo Braga, et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2023 0 0. (1) e20220330
COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS.
Pulvirenti Federica, et al. The journal of allergy and clinical immunology. In practice 2022 0 0. (1) 292-305.e2
SARS-CoV-2 booster vaccination rescues attenuated IgG1 memory B cell response in primary antibody deficiency patients.
Lin Frank J, et al. Frontiers in immunology 2023 0 0. 1033770
Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency.
Walter Jolan E, et al. The journal of allergy and clinical immunology. In practice 2023 0 0. (1) 107-115
COVID-19 in patients with pulmonary alveolar proteinosis: a European multicentre study.
Papiris Spyros A, et al. ERJ open research 2023 0 0. (1)
Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Delplanque Marion et al. Rheumatology (Oxford, England) 2022
Humoral immunogenicity of COVID-19 vaccines in patients with coeliac disease and other noncoeliac enteropathies compared to healthy controls.
Scalvini Davide, et al. European journal of gastroenterology & hepatology 2022 0 0. (2) 167-173
Hereditary Angioedema and COVID-19 during Pregnancy- Two Case Reports.
Salih Amanda, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Population Risk Factors for Severe Disease and Mortality in COVID-19 in the United States during the Pre-Vaccine Era: A Retrospective Cohort Study of National Inpatient Sample.
Raj Kavin, et al. Medical sciences (Basel, Switzerland) 2022 0 0. (4)
COVID-19 vaccination and Atypical hemolytic uremic syndrome.
Bouwmeester Romy N, et al. Frontiers in immunology 2022 0 0. 1056153
Editorial: Dysregulation of immunity predisposing to severe COVID-19 infection.
Halwani Rabih, et al. Frontiers in immunology 2022 0 0. 1099089
Functionally impaired antibody response to BNT162b2 booster vaccination in CVID IgG responders.
Sauerwein Kai M T, et al. The Journal of allergy and clinical immunology 2022 0 0.
Chronic graft vs. host disease and hypogammaglobulinemia predict a lower immunological response to the BNT162b2 mRNA COVID-19 vaccine after allogeneic hematopoietic stem cell transplantation.
Barabino L, et al. European review for medical and pharmacological sciences 2022 0 0. (23) 8984-8989
Multi-omics identify falling LRRC15 as a COVID-19 severity marker and persistent pro-thrombotic signals in convalescence.
Gisby Jack S, et al. Nature communications 2022 0 0. (1) 7775
Clinical, laboratory, and chest radiographic characteristics of COVID-19 associated severe pediatric pneumonia. A retrospective study.
Asseri Ali A, et al. Saudi medical journal 2022 0 0. (12) 1390-1396
Experience with Sotrovimab treatment of SARS-CoV-2 infected patients in Denmark.
Rasmussen Line Dahlerup, et al. British journal of clinical pharmacology 2022 0 0.
Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity.
Tangye Stuart G, et al. The Journal of allergy and clinical immunology 2022 0 0.
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
Forlanini Federica et al. Journal of clinical immunology 2022
Case report: Evolution of pulmonary manifestations and virological markers in critical COVID-19 infection in Bruton's agammaglobulinemia.
Rise Nina, et al. Frontiers in immunology 2022 0 0. 1057065
NFKB2 haploinsufficiency identified via screening for IFNα2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications.
Bodansky Aaron, et al. The Journal of allergy and clinical immunology 2022 0 0.
The Interplay of COVID-19 and Hereditary Angioedema: Preventing an Acute Attack.
Park Erin G, et al. Cureus 2022 0 0. (9) e29189
Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.
Akcan Mehmet Berkay, et al. International journal of rheumatic diseases 2022 0 0.
SARS-COV-2 infections in inborn errors of immunity: A single center study.
Cousins Kimberley, et al. Frontiers in immunology 2022 0 0. 1035571
A rare onset in tumour necrosis factor receptor-associated periodic syndrome: recurrent macrophage activation syndrome triggered by COVID-19 infection.
Çaglayan Sengül, et al. Rheumatology (Oxford, England) 2022 0 0. (12) e366-e367
Contextual counters and multimodal Deep Learning for activity-level traffic classification of mobile communication apps during COVID-19 pandemic.
Guarino Idio, et al. Computer networks 2022 0 0. 109452
Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.
Nakayama Tomohiro, et al. Internal medicine (Tokyo, Japan) 2022 0 0.
Association of miR-144 levels in the peripheral blood with COVID-19 severity and mortality.
Madè Alisia, et al. Scientific reports 2022 0 0. (1) 20048
Correlation between Clinical and Immunological Variables and Humoral Response to SARS-CoV-2 Vaccination in Adult Patients with Antibody Deficiency Disorders.
Bracke Carmen, et al. Pathogens (Basel, Switzerland) 2022 0 0. (11)
Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.
Xue Huili et al. Scientific reports 2022 12(1) 19750
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
Bastard Paul, et al. The Journal of experimental medicine 2022 0 0. (6)
Inborn Errors of Immunity on the Island of Ireland - a Cross-Jurisdictional UKPID/ESID Registry Report.
Ryan Paul, et al. Journal of clinical immunology 2022 0 0. (6) 1293-1299
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña Ana Karen, et al. Journal of clinical immunology 2022 0 0. 1-13
COMMON VARIABLE IMMUNODEFICIENCY: PREDISPOSING OR PROTECTIVE FACTOR FOR SEVERE COMPLICATIONS OF COVID-19?
Ferenc Thomas, et al. Acta clinica Croatica 2022 0 0. (1) 107-114
SARS-CoV-2 infection in the context of Kawasaki disease and multisystem inflammatory syndrome in children.
Folga Barbara Anna, et al. Medical microbiology and immunology 2022 0 0.
The oldest unvaccinated Covid-19 survivors in South America.
de Castro Mateus V, et al. Immunity & ageing : I & A 2022 0 0. (1) 57
Clinical outcomes, immunogenicity, and safety of BNT162b22 Vaccine in Primary Antibody Deficiency.
Milota Tomas, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Longitudinal Analyses after COVID-19 Recovery or Prolonged Infection Reveal Unique Immunological Signatures after Repeated Vaccinations.
Hisamatsu Daisuke, et al. Vaccines 2022 0 0. (11)
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study.
Milito Cinzia, et al. Journal of clinical immunology 2022 0 0.
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson Benjamin L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200269
Evaluation of the frequency and intensity of COVID-19 in patients with ankylosing spondylitis under anti-TNF therapy.
Türk Sümeyye Merve, et al. Turkish journal of medical sciences 2022 0 0. (2) 522-523
Atypical Hemolytic Uremic Syndrome Occurring After Receipt of mRNA-1273 COVID-19 Vaccine Booster: A Case Report.
Claes Kathleen J, et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2022 0 0.
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.
Sokal Aurélien, et al. The Journal of experimental medicine 2022 0 0. (1)
The Uncomplicated Course of COVID-19 in Primary Immunodeficiency Patients: A Report of 14 Common Variable Immunodeficiency Patients.
Nabavi Mohammad, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (5) 594-599
Treatment of COVID-19 with convalescent plasma in patients with humoral immunodeficiency - Three consecutive cases and review of the literature.
Delgado-Fernández Marcial, et al. Enfermedades infecciosas y microbiologia clinica (English ed.) 2022 0 0. (9) 507-516
Positive perception of COVID-19 vaccination in HAE: No significant impact of vaccination on disease course.
Oztop Nida, et al. Allergy and asthma proceedings 2022 0 0. (6) 546-554
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
Takanohashi Asako, et al. Molecular genetics and metabolism 2022 0 0. (4) 320-327
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature.
Akbar Asra, et al. BMJ case reports 2022 0 0. (11)
Kinetics of immune responses elicited after three mRNA COVID-19 vaccine doses in predominantly antibody-deficient individuals.
Ainsua-Enrich Erola, et al. iScience 2022 0 0. 105455
Alveolar Proteinosis in COVID-19: Clinical Case.
Martin Bote Silvia, et al. Case reports in pulmonology 2022 0 0. 1842566
The Multiple Faces of Nitric Oxide in Chronic Granulomatous Disease: A Comprehensive Update.
Garay Juan Agustín, et al. Biomedicines 2022 0 0. (10)
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.
Baris Safa et al. The journal of allergy and clinical immunology. In practice 2022
Support vector machine deep mining of electronic medical records to predict the prognosis of severe acute myocardial infarction.
Zhou Xingyu et al. Frontiers in physiology 2022 13991990
Atypical hemolytic uremic syndrome triggered by mRNA vaccination against SARS-CoV-2: Case report.
Rysava Romana, et al. Frontiers in immunology 2022 0 0. 1001366
Coronavirus disease 2019 vaccination uptake and hesitancy among Polish patients with inborn errors of immunity, autoinflammatory syndromes, and rheumatic diseases: A multicenter survey.
Wiesik-Szewczyk Ewa, et al. Frontiers in immunology 2022 0 0. 1010899
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo Monica, et al. Frontiers in immunology 2022 0 0. 985433
A Validated Artificial Intelligence-based Pipeline for Population-Wide Primary Immunodeficiency Screening.
Rider Nicholas L et al. The Journal of allergy and clinical immunology 2022
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
David Odeya, et al. Journal of clinical immunology 2022 0 0.
Phenotype of BTK-lacking myeloid cells during prolonged COVID-19 and upon convalescent plasma.
Gomes André M C, et al. European journal of haematology 2022 0 0.
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity.
Erra Lorenzo, et al. Journal of clinical immunology 2022 0 0.
JAK: Not Just Another Kinase.
Agashe Ruchi P, et al. Molecular cancer therapeutics 2022 0 0.
Monoclonal antibody treatment of COVID-19 in a pregnant woman with common variable immunodeficiency.
Aberumand Babak, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 0 0. (1) 91
COVID-19 in Chronic Granulomatosis Disease: A Case Report.
Esmaeilzadeh Hossein, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (4) 478-483
TIMELESS is a key gene mediating thrombogenesis in COVID-19 and antiphospholipid syndrome.
Zhang Wenjing, et al. Scientific reports 2022 0 0. (1) 17248
Coronavirus Disease 2019-Associated Thrombotic Microangiopathy: Literature Review.
Malgaj Vrecko Marija, et al. International journal of molecular sciences 2022 0 0. (19)
Maternal SARS-CoV-2 infection and aplasia cutis congenita in a newborn.
Jiang Y, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2022 0 0. (11) e868-e870
Selective IgA deficiency may be an under-recognized risk factor for severe COVID-19.
Ameratunga Rohan, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
COVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.
Koltan Sylwia, et al. Frontiers in immunology 2022 0 0. 953700
Haploidentical CD3+ TCR αβ/CD19+ depleted HSCT for MHC Class II deficiency and persistent SARS-CoV-2 pneumonitis.
Ramanathan Subramaniam, et al. The journal of allergy and clinical immunology. Global 2022 0 0.
Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.
Shields Adrian M, et al. Frontiers in immunology 2022 0 0. 984376
Outcome of SARS-CoV-2 infection among patients with common variable immunodeficiency and a matched control group: A Danish nationwide cohort study.
Katzenstein Terese L, et al. Frontiers in immunology 2022 0 0. 994253
Safety and immunogenicity of 3 doses of BNT162b2 and CoronaVac in children and adults with inborn errors of immunity.
Leung Daniel, et al. Frontiers in immunology 2022 0 0. 982155
Immunogenicity and Safety of the Spikevax® (Moderna) mRNA SARS-CoV-2 Vaccine in Patients with Primary Humoral Immunodeficiency.
Kralickova Pavlina, et al. International archives of allergy and immunology 2022 0 0. 1-14
Effectiveness and safety of lanadelumab in ethnic and racial minority subgroups of patients with hereditary angioedema: results from phase 3 studies.
Craig Timothy J et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 85
BNT162b2 coronavirus disease-2019 vaccination accelerated rheumatoid arthritis disease activity in chronic eosinophilic pneumonia: A case report.
Morikawa Moeko Murano, et al. Medicine 2022 0 0. (39) e30806
Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.
Göschl Lisa, et al. Frontiers in immunology 2022 0 0. 974987
Treating hereditary transthyretin amyloidosis: Present & future challenges.
Echaniz-Laguna A et al. Revue neurologique 2022
Gene Therapy Cargos Based on Viral Vector Delivery.
Lundstrom Kenneth, et al. Current gene therapy 2022 0 0.
Incidence and clinical course of COVID-19 in patients using omalizumab for chronic spontaneous urticaria and/or severe allergic asthma and using mepolizumab for severe eosinophilic asthma: A single center real life experience.
Yildiz Reyhan, et al. Tuberkuloz ve toraks 2022 0 0. (3) 231-241
MPN-024 Hypereosinophilic Syndrome: A Catastrophic Pediatric Case.
Bello Adriana, et al. Clinical lymphoma, myeloma & leukemia 2022 0 0. S322
Real-world comparative effectiveness of mRNA-1273 and BNT162b2 vaccines among immunocompromised adults identified in administrative claims data in the United States.
Mues Katherine E, et al. Vaccine 2022 0 0.
Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Presenting with Annular Erythema following COVID-19 Vaccination.
He Yifan, et al. Vaccines 2022 0 0. (9)
Atypical Hemolytic Uremic Syndrome after SARS-CoV-2 Infection: Report of Two Cases.
Smarz-Widelska Iwona, et al. International journal of environmental research and public health 2022 0 0. (18)
Role of Innate and Adaptive Cytokines in the Survival of COVID-19 Patients.
Monserrat Jorge, et al. International journal of molecular sciences 2022 0 0. (18)
Canakinumab might be Protective against Severe COVID-19 for Patients with Autoinflammatory Disorders.
Alkan Arif, et al. Mediterranean journal of rheumatology 2022 0 0. (2) 237-240
Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Wang Yu et al. JAMA cardiology 2022
Coronavirus Disease 2019-Associated Thrombotic Microangiopathy.
Malgaj Vrecko Marija, et al. Journal of hematology 2022 0 0. (4) 148-153
Frequency of Bacteremia and Urinary Tract Infection in Pediatric Renal Transplant Recipients.
Cruz Andrea T, et al. The Pediatric infectious disease journal 2022 0 0.
Genetic and immunological evaluation of children with inborn errors of immunity and severe or critical COVID-19.
Abolhassani Hassan, et al. The Journal of allergy and clinical immunology 2022 0 0.
A case of hemophagocytic lymphohistiocytosis following second dose of COVID-19 vaccination.
Park Hee Won, et al. Acta haematologica 2022 0 0.
Elucidating the enhanced binding affinity of a double mutant SP-D with trimannose on the influenza A virus using molecular dynamics.
Li Deng, et al. Computational and structural biotechnology journal 2022 0 0. 4984-5000
Outstanding Features of COVID-19 Overlapping Primary Immunodeficiency in Children.
Jiang Qi, et al. Immune network 2022 0 0. (4) e30
Prevalence and impact of misdiagnosed drug allergy labels among patients with hereditary angioedema.
Wong Jane Chi Yan et al. Frontiers in allergy 2022 3953117
Omicron SARS-CoV-2 Neutralization by Immunoglobulin Preparations Manufactured from Plasma Collected in the US and Europe.
Farcet Maria R, et al. The Journal of infectious diseases 2022 0 0.
Acute exacerbation of idiopathic hypereosinophilic syndrome following asymptomatic coronavirus disease 2019: a case report.
Suzuki Satoshi, et al. Journal of medical case reports 2022 0 0. (1) 324
Immunogenicity and Safety of mRNA Anti-SARS-CoV-2 Vaccines in Patients with Systemic Lupus Erythematosus.
Mormile Ilaria, et al. Vaccines 2022 0 0. (8)
SARS-CoV-2 infection and treatment in a cohort of patients with inborn errors of immunity.
Conti Francesca, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022 0 0. (8) e13833
Prospective study on the efficacy and impact of Cascade Screening and Evaluation of HAE (CaSE-HAE).
Wong Jane C Y et al. The journal of allergy and clinical immunology. In practice 2022
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19.
van der Made Caspar I et al. Genome medicine 2022 8 (1) 96
COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla Emily et al. Clinical immunology (Orlando, Fla.) 2022 8 109097
Common variable immunodeficiency and its inflammatory neurological manifestations: A case report and literature review.
Martins Bárbara, et al. Multiple sclerosis and related disorders 2022 0 0. 104086
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.
Michniacki Thomas F, et al. Journal of clinical immunology 2022 0 0.
Antibody response following the third and fourth SARS-CoV-2 vaccine dose in individuals with common variable immunodeficiency.
Nielsen Bibi Uhre, et al. Frontiers in immunology 2022 0 0. 934476
Atypical HUS Triggered by COVID-19: A Case Report.
Tiwari Vaibhav, et al. Indian journal of nephrology 2022 0 0. (4) 367-370
Real-life data on monoclonal antibodies and antiviral drugs in Italian inborn errors of immunity patients during COVID-19 pandemic.
Garzi Giulia, et al. Frontiers in immunology 2022 0 0. 947174
Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.
Gao Yu, et al. Immunity 2022 0 0.
Newborn Tandem Mass Spectroscopy Screening for Adenosine Deaminase Deficiency-First Two Years' Experience.
Hartog Nicholas et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022
COVID-19 and Inborn Errors of Immunity.
Delmonte Ottavia M, et al. Physiology (Bethesda, Md.) 2022 0 0.
Plasma metabolome and cytokine profile reveal glycylproline modulating antibody fading in convalescent COVID-19 patients.
Yang Zhu, et al. Proceedings of the National Academy of Sciences of the United States of America 2022 0 0. (34) e2117089119
Response to mRNA COVID-19 vaccination in three XLA patients.
Squire J D, et al. Vaccine 2022 0 0.
The specialty of allergy and clinical immunology in Brazil.
de Mello Luane Marques, et al. Frontiers in allergy 2022 0 0. 933816
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine Hugo et al. American journal of human genetics 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446
Effectiveness of the BNT162b2 mRNA COVID-19 Vaccine among Adolescents with Juvenile-onset Inflammatory Rheumatic Diseases.
Ziv Amit, et al. Rheumatology (Oxford, England) 2022 0 0.
The COVID-19 Mirage: A Young Biologist With an Atypical Presentation of a Zoonotic Disease During the COVID-19 Pandemic.
Chiriboga Jose D, et al. Cureus 2022 0 0. (7) e26493
TRIM18 is a critical regulator of viral myocarditis and organ inflammation.
Fang Mingli, et al. Journal of biomedical science 2022 0 0. (1) 55
First allergy conference in Qatar: Let's explore allergy with a new lens.
Al-Nesf Maryam, et al. Qatar medical journal 2022 0 0. (2) 1
[Vaccination and Vaccination Response in Immunodeficiency].
Rohner Géraldine Blanchard, et al. Therapeutische Umschau. Revue therapeutique 2022 0 0. (6) 307-311
Hypereosinophilic syndrome onset with Loeffler's endocarditis after COVID-19 infection.
Mapelli Massimo, et al. European heart journal. Cardiovascular Imaging 2022 0 0.
COVID-19 vaccination rate and side effects in CVID patients over the age of 12.
Özdemir Öner, et al. Human vaccines & immunotherapeutics 2022 0 0. (5) 2068337
Impact of Covid-19 Pandemic on the Effectiveness of Outpatient Counseling in Childhood Obesity Management.
Corica Domenico, et al. Frontiers in endocrinology 2022 0 0. 879440
COVID-19 in Familial Mediterranean Fever: Clinical Course and Complications Related to Primary Disease.
Avanoglu Guler Aslihan, et al. Modern rheumatology 2022 0 0.
Whole lung lavage: Treating pulmonary alveolar proteinosis at the time of COVID pandemic.
Powers Katherine Jean, et al. Respiratory medicine case reports 2022 0 0. 101707
Characteristics of Patients Who Underwent a Diagnostic Test for Hereditary Angioedema Admitted Due to Angioedema.
Sengül Emeksiz Zeynep et al. Journal of tropical pediatrics 2022 68(4)
The mirage of domestic violence during COVID-19 pandemic in Nepal.
Bhandari Dilip, et al. Journal of global health 2022 0 0. 03049
[Patient with Good's syndrome and COVID-19. Report of a clinical case].
Maldonado-Domínguez Edwin Daniel, et al. Revista medica del Instituto Mexicano del Seguro Social 2022 0 0. (4) 474-479
Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant.
Narahari Prasanth G, et al. Journal of clinical immunology 2022 0 0.
Correspondence on "Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry" by Machado et al.
Bourguiba Rim, et al. Annals of the rheumatic diseases 2022 0 0.
Case Report: Successful Treatment With Monoclonal Antibodies in One APDS Patient With Prolonged SARS-CoV-2 Infection Not Responsive to Previous Lines of Treatment.
Rivalta Beatrice, et al. Frontiers in immunology 2022 0 0. 891274
Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations.
Similuk Morgan N et al. The Journal of allergy and clinical immunology 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn Jessica et al. Frontiers in immunology 2022 13906540
Specific Antibody and the T-Cell Response Elicited by BNT162b2 Boosting After Two ChAdOx1 nCoV-19 in Common Variable Immunodeficiency.
Goda Vera, et al. Frontiers in immunology 2022 0 0. 907125
Passive immunization against COVID-19 by anti-SARS-CoV-2 spike IgG in commercially available immunoglobulin preparations in severe antibody deficiency.
Hirsiger Julia R, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Injection Effect of Anti-CD3 Monoclonal Antibody on Primo Vessel in Lymph Vessel of Rabbit with Lipopolysaccharide-Induced Inflammation.
Choi Sang-Heon, et al. Journal of acupuncture and meridian studies 2022 0 0. (1) 37-42
Case Report: A Severe Paediatric Presentation of COVID-19 in APDS2 Immunodeficiency.
Sanchez Clemente Nuria, et al. Frontiers in immunology 2022 0 0. 881259
Clinical and radiological improvement of protracted COVID-19 and Good syndrome secondary to advanced thymoma.
Cerezoli Milena Tenorio, et al. Pulmonology 2022 0 0.
Defining Clinical and Immunological Predictors of Poor Immune Responses to COVID-19 mRNA Vaccines in Patients with Primary Antibody Deficiency.
Shin Junghee Jenny, et al. Journal of clinical immunology 2022 0 0.
Immunizing the Imperfect Immune System: COVID-19 Vaccination in Patients with Inborn Errors of Immunity.
Durkee-Shock Jessica R, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD Study.
Shields Adrian M, et al. Frontiers in immunology 2022 0 0. 912571
SARS-CoV-2 infection in patients with inborn errors of immunity due to DNA repair defects.
Wang Yating, et al. Acta biochimica et biophysica Sinica 2022 0 0.
Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1.
Sills E Scott, et al. Global medical genetics 2022 0 0. (2) 124-128
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity.
Liu Panhong, et al. Frontiers in cellular and infection microbiology 2022 0 0. 888582
Clinical impact and disease evolution of SARS-CoV-2 infection in familial Mediterranean fever.
Marinelli Francesca, et al. Pharmacological research 2022 0 0. 106293
mRNA vaccine boosting enhances antibody responses against SARS-CoV-2 Omicron variant in individuals with antibody deficiency syndromes.
Zimmerman Ofer, et al. Cell reports. Medicine 2022 0 0. 100653
Take a Leap of Faith: Implement Routine Genetic Testing in your Office.
Convers Kathryn D et al. The journal of allergy and clinical immunology. In practice 2022
22q11.2 Deletion and Duplication Syndromes and COVID-19.
Crowley T Blaine, et al. Journal of clinical immunology 2022 0 0. (4) 746-748
Epidemiological characteristics, clinical course, and laboratory investigation of pediatric COVID-19 patients in a Tertiary Care Center in Saudi Arabia.
Duabie Bayan, et al. International journal of pediatrics & adolescent medicine 2022 0 0.
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
Campbell Tessa Mollie, et al. The Journal of experimental medicine 2022 0 0. (7)
A case of pulmonary alveolar proteinosis misdiagnosed as COVID-19 pneumonia.
Sisman Mustafa, et al. Cirugia y cirujanos 2022 0 0. (3) 402-405
A single-center COVID-19 vaccine experience with CoronaVac and BNT162b2 in familial Mediterranean fever patients.
Güven Serdar Can, et al. International journal of rheumatic diseases 2022 0 0.
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.
Shields Adrian M, et al. Clinical and experimental immunology 2022 0 0.
Predictors of seroconversion following COVID-19 vaccination.
Chiarella Sergio E, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
Establishment of ICU Mortality Risk Prediction Models with Machine Learning Algorithm Using MIMIC-IV Database.
Pang Ke et al. Diagnostics (Basel, Switzerland) 2022 12(5)
Mortality in Severe Antibody Deficiencies Patients during the First Two Years of the COVID-19 Pandemic: Vaccination and Monoclonal Antibodies Efficacy.
Milito Cinzia, et al. Biomedicines 2022 0 0. (5)
SARS-CoV-2 Symptomatic reinfection Among Patients with Primary Antibody Deficiency.
Marcus Nufar, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Immune globulin therapy and kidney disease: Overview and screening, monitoring, and management recommendations.
Kobayashi Roger H, et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2022 0 0.
Secondary Complement Deficiency Impairs Anti-Microbial Immunity to Klebsiella pneumoniae and Staphylococcus aureus During Severe Acute COVID-19.
Ali Youssif M, et al. Frontiers in immunology 2022 0 0. 841759
The influence of familiarity on memory for faces and mask wearing.
Kollenda Diana, et al. Cognitive research: principles and implications 2022 0 0. (1) 45
Antibodies to SARS-CoV-2 in patients with primary immunodeficiencies treated with nonspecific immunoglobulins.
Eguía Jorge, et al. Immunology 2022 0 0.
Evaluation of Humoral and Cellular Immune Responses to the SARS-CoV-2 Vaccine in Patients With Common Variable Immunodeficiency Phenotype and Patient Receiving B-Cell Depletion Therapy.
Antolí Arnau, et al. Frontiers in immunology 2022 0 0. 895209
Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.
Díaz-Alberola Irene, et al. Journal of clinical medicine 2022 0 0. (9)
MAIT cell compartment characteristics are associated with the immune response magnitude to the BNT162b2 mRNA anti-SARS-CoV-2 vaccine.
Boulouis Caroline, et al. Molecular medicine (Cambridge, Mass.) 2022 0 0. (1) 54
Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib.
Pararajasingam Abirami, et al. Frontiers in pediatrics 2022 0 0. 837568
T-cell responses to SARS-CoV-2 in healthy controls and primary immunodeficiency patients.
Awuah Arnold, et al. Clinical and experimental immunology 2022 0 0. (3) 336-339
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant.
Lindahl Hannes, et al. Journal of clinical immunology 2022 0 0.
Acute Eosinophilic Pneumonia Following mRNA COVID-19 Vaccination: A Case Report.
Barrio Piqueras Miguel, et al. Archivos de bronconeumologia 2021 0 0. 53-54
COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI - the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.
Bourguiba Rim, et al. RMD open 2022 0 0. (1)
Eosinophilic Pneumonia Associated to SARS-CoV-2 Vaccine.
Costa E Silva Margarida, et al. Archivos de bronconeumologia 2021 0 0. 51-52
Understanding attitudes and obstacles to vaccination against COVID-19 in patients with primary immunodeficiency.
Aberumand Babak, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 0 0. (1) 38
Easy approach to detect cell immunity to COVID vaccines in common variable immunodeficiency patients.
Barrios Yvelise, et al. Allergologia et immunopathologia 2022 0 0. (3) 101-105
Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.
Van Quekelberghe Chantal, et al. Pediatric nephrology (Berlin, Germany) 2022 0 0.
COVID-19 Infection in Patients with Humoral Immunodeficiency: A Case Series and Literature Review.
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2022 0 0. 21526575221096044
Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report.
Chung Ming Hin, et al. Frontiers in pediatrics 2022 0 0. 794110
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review.
Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227
A Retrospective Analysis of Risk Factors Associated with the SARS-CoV-2 Breakthrough in Fully mRNA Vaccinated Individuals.
Liu Cong, et al. JMIR public health and surveillance 2022 0 0.
Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
Batu Ezgi Deniz et al. Current rheumatology reports 2022
Are Dyskeratosis Congenita patients at higher risk of symptomatic COVID-19?
Dorgaleleh Saeed, et al. Medical hypotheses 2022 0 0. 110843
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo Moisés, et al. Frontiers in immunology 2022 0 0. 881206
Comparisons of Clinical Features and Outcomes of COVID-19 between Patients with Pediatric Onset Inflammatory Rheumatic Diseases and Healthy Children.
Haslak Fatih, et al. Journal of clinical medicine 2022 0 0. (8)
STAT1 and Its Crucial Role in the Control of Viral Infections.
Tolomeo Manlio, et al. International journal of molecular sciences 2022 0 0. (8)
Eosinophilic pneumonia and COVID-19 vaccination.
May J, et al. QJM : monthly journal of the Association of Physicians 2022 0 0. (4) 251-252
Severe COVID-19 represents an undiagnosed primary immunodeficiency in a high proportion of infected individuals.
Gray Paul E, et al. Clinical & translational immunology 2022 0 0. (4) e1365
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet).
Giardino Giuliana, et al. Journal of clinical immunology 2022 0 0.
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Askarian Saeedeh et al. Oral and maxillofacial surgery 2022
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan Christopher J A, et al. The Journal of experimental medicine 2022 0 0. (6)
Impact of Primary Immunodeficiency Diseases on the Life Experiences of Patients in Malaysia From the Caregivers' Perspective: A Qualitative Study.
Ahmed Meelad Ruwaydah, et al. Frontiers in pediatrics 2022 0 0. 846393
Acute Cerebellitis and Myeloradiculitis Associated With SARS-CoV-2 Infection in Common Variable Immunodeficiency-A Case Report.
Lemus Hernan Nicolas, et al. The Neurohospitalist 2022 0 0. (2) 361-365
Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.
van Leeuwen Leanne P M, et al. The Journal of allergy and clinical immunology 2022 0 0.
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study.
Shields Adrian M, et al. Journal of clinical immunology 2022 0 0.
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson Parker C et al. Kidney360 2022 1(8) 772-780
A multicenter, open-label, randomized, proof-of-concept phase II clinical trial to assess the efficacy and safety of icatibant in patients infected with SARS-CoV-2 (COVID-19) and admitted to hospital units without invasive mechanical ventilation: study protocol (ICAT-COVID).
Malchair Pierre, et al. Trials 2022 0 0. (1) 303
Are covered faces eye-catching for us? The impact of masks on attentional processing of self and other faces during the COVID-19 pandemic.
Zochowska Anna, et al. Cortex; a journal devoted to the study of the nervous system and behavior 2022 0 0. 173-187
Specific T-cell responses for guiding treatment with convalescent plasma in severe COVID-19 and humoral immunodeficiency: a case report.
Nyström Katarina, et al. BMC infectious diseases 2022 0 0. (1) 362
Evaluation of Humoral and Cellular Responses in SARS-CoV-2 mRNA Vaccinated Immunocompromised Patients.
Oyaert Matthijs, et al. Frontiers in immunology 2022 0 0. 858399
Specific antibody response of 14 common variable immunodeficiency patients to three BNT162b2 mRNA COVID-19 vaccinations.
Abo-Helo Nizar, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
[A hemolytic episode following COVID-19 in a case with atypical hemolytic uremic syndrome].
Suzuki Kazutaka, et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2022 0 0. (3) 224-228
Masked face identification is improved by diagnostic feature training.
Carragher Daniel J, et al. Cognitive research: principles and implications 2022 0 0. (1) 30
Response to SARS-CoV-2 Initial Series and Additional Dose Vaccine in Patients with Predominant Antibody Deficiency.
Barmettler Sara, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Safety of SARS-CoV-2 vaccination in patients with Behcet's syndrome and familial Mediterranean fever: a cross-sectional comparative study on the effects of M-RNA based and inactivated vaccine.
Ozdede Ayse, et al. Rheumatology international 2022 0 0.
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine.
Gupta Sudhir, et al. Journal of clinical immunology 2022 0 0.
Response-Liminality and the Mirage of Settlement.
Hooker Claire, et al. Journal of bioethical inquiry 2022 0 0.
SARS-CoV-2 T Cell Response in Severe and Fatal COVID-19 in Primary Antibody Deficiency Patients Without Specific Humoral Immunity.
Steiner Sophie, et al. Frontiers in immunology 2022 0 0. 840126
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome.
Akahane Daigo, et al. Journal of clinical immunology 2022 0 0.
Common Variable Immunodeficiency in Elderly Patients: A Long-Term Clinical Experience.
Danieli Maria Giovanna et al. Biomedicines 2022 10(3)
Immunogenicity of a third COVID-19 messenger RNA vaccine dose in primary immunodeficiency disorder patients with functional B-cell defects.
Gernez Yael, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Severe Acute Respiratory Distress Syndrome (ARDS) or Severely Increased Chest Wall Elastance?
Lindner Simon, et al. Cureus 2022 0 0. (2) e22541
Hemophagocytic Lymphohistiocytosis Gene Variants in Multisystem Inflammatory Syndrome in Children.
Vagrecha Anshul, et al. Biology 2022 0 0. (3)
Responses to SARS-CoV-2 Vaccines of Patients with Common Variable Immune Deficiencies and X-linked Agammaglobulinemia.
Carrabba Maria, et al. Journal of clinical immunology 2022 0 0.
A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders.
Tucci Francesca et al. Nature communications 2022 13(1) 1315
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.
O'Toole Dana et al. Journal of clinical immunology 2022
Human autoantibodies underlying infectious diseases.
Puel Anne, et al. The Journal of experimental medicine 2022 0 0. (4)
Secondary Hemophagocytic Lymphohistiocytosis in a Post-COVID-19 Patient.
Bandaru Sai Samyuktha, et al. Cureus 2022 0 0. (2) e22620
Frequency and Severity of COVID-19 in Patients with Various Rheumatic Diseases Treated Regularly with Colchicine or Hydroxychloroquine.
Oztas Mert, et al. Journal of medical virology 2022 0 0.
Health budget in light of pandemic: Health reforms from mirage to reality.
Jain Bhavna, et al. Journal of family medicine and primary care 2022 0 0. (1) 1-4
Insights From Early Clinical Trials Assessing Response to mRNA SARS-CoV-2 Vaccination in Immunocompromised Patients.
Baron Frédéric, et al. Frontiers in immunology 2022 0 0. 827242
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia.
Schidlowski Laire, et al. Journal of clinical immunology 2022 0 0.
Case Report: Tackling Complement Hyperactivation With Eculizumab in Atypical Hemolytic Uremic Syndrome Triggered by COVID-19.
Leone Valentina Fanny, et al. Frontiers in pharmacology 2022 0 0. 842473
Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity - Results From a Multicenter Nationwide Study.
Milota Tomas, et al. Frontiers in immunology 2022 0 0. 835770
Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers.
Kutsa Oksana et al. Frontiers in pediatrics 2022 10804709
The Effect of COVID-19 Pandemic on Patients with Primary Immunodeficiency: A Cohort Study.
Babaei Maryam, et al. Iranian journal of medical sciences 2022 0 0. (2) 162-166
Elevated CD21 B Cell Frequency Is a Marker of Poor Immunity to Pfizer-BioNTech BNT162b2 mRNA Vaccine Against SARS-CoV-2 in Patients with Common Variable Immunodeficiency.
Bergman Peter, et al. Journal of clinical immunology 2022 0 0.
Case Report: Pneumonia in a Patient With Combined Variable Immunodeficiency: COVID-19 or Pneumocystis Pneumonia?
Tehrani Shabnam, et al. Frontiers in medicine 2022 0 0. 814300
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
Barua Subit et al. Molecular cytogenetics 2022 15(1) 7
Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network.
Quinn Jessica et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 19
Antibody responses to inactivated and mRNA SARS-CoV-2 vaccines in familial Mediterranean fever patients treated with interleukin-1 inhibitors.
Ugurlu Serdal, et al. Rheumatology (Oxford, England) 2022 0 0.
Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.
Galletta Thomas J, et al. Pediatric blood & cancer 2022 0 0. e29647
COVID-19 Infection in Hypereosinophilic Syndrome: A survey-based analysis.
Espinoza David F, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld syndrome.
Piazza I, et al. Progress in pediatric cardiology 2022 0 0. 101508
Antigen-Specific CD4 T-Cell Activation in Primary Antibody Deficiency After BNT162b2 mRNA COVID-19 Vaccination.
Sauerwein Kai M T, et al. Frontiers in immunology 2022 0 0. 827048
Do reduced numbers of plasmacytoid dendritic cells contribute to the aggressive clinical course of COVID-19 in chronic lymphocytic leukemia?
Smith C I Edvard, et al. Scandinavian journal of immunology 2022 0 0. e13153
Herpes simplex encephalitis following ChAdOx1 nCoV-19 vaccination: a case report and review of the literature.
Moslemi Mohammadreza, et al. BMC infectious diseases 2022 0 0. (1) 217
Neonatal COVID and Familial Hemophagocytic Lymphohistiocytosis.
Hon Kam Lun Ellis, et al. Pediatric emergency care 2022 0 0. (3) e1094-e1096
Safety of the BNT162b2 mRNA COVID-19 vaccine in patients with familial Mediterranean fever.
Shechtman Liran, et al. Rheumatology (Oxford, England) 2022 0 0.
Severe SARS-COV-2 infection in pediatric patient with atypical Hemolytic Uremic Syndrome: A case report.
Hamza Salih Boushra, et al. Annals of medicine and surgery (2012) 2022 0 0. 103400
The Diagnosis of Common Variable Immunodeficiency After Multisystem Dysfunction.
Rasul Taha F, et al. Cureus 2022 0 0. (1) e21624
COVID-19 Vaccination Safety and Tolerability in Patients Allegedly at High Risk for Immediate Hypersensitivity Reactions.
Ieven Toon, et al. Vaccines 2022 0 0. (2)
Human genetics of SARS-CoV-2 infection and critical COVID-19.
Mogensen Trine H, et al. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2022 0 0.
A Rare STXBP2 Mutation in Severe COVID-19 and Secondary Cytokine Storm Syndrome.
Reiff Daniel D, et al. Life (Basel, Switzerland) 2022 0 0. (2)
Host Defenses to Viruses: Lessons from Inborn Errors of Immunity.
Leonardi Lucia, et al. Medicina (Kaunas, Lithuania) 2022 0 0. (2)
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan Aidin et al. International journal of molecular sciences 2022 23(3)
The Immune Response to SARS-CoV-2 Vaccination: Insights Learned From Adult Patients With Common Variable Immune Deficiency.
Quinti Isabella, et al. Frontiers in immunology 2022 0 0. 815404
COVID-19 in CVID: a Case Series of 17 Patients.
Greenmyer Jacob R, et al. Journal of clinical immunology 2021 0 0. (1) 29-31
Psychological State of Parents of Children with Primary Immunodeficiencies During the COVID-19 Pandemic.
Akdag Berhan, et al. Pediatric allergy, immunology, and pulmonology 2022 0 0.
Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.
Öztürk Kübra et al. Frontiers in pediatrics 2022 9805919
STROKE, COVID-19 INFECTION OR HERPES SIMPLEX ENCEPHALITIS: A DIAGNOSTIC DILEMMA.
R Traynor, et al. The Ulster medical journal 2022 0 0. (1) 56-57
A COVID-19 Vaccinated Patient with Phosphoinositide 3-Kinase Disease with Mild Illness Following SARS-CoV-2 Infection.
Sarkaria Sandeep, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
B cells promote CD8 T cell primary and memory responses to subunit vaccines.
Klarquist Jared, et al. Cell reports 2021 0 0. (8) 109591
Efficacy of Inactivated Vaccines in Patients Treated with Immunosuppressive Drug Therapy.
Bemben Nina M, et al. Pharmacotherapy 2022 0 0.
Prediction of More Severe MEFV Gene Mutations in Childhood.
Günes-Yilmaz Seviye et al. Turkish archives of pediatrics 2022 56(6) 610-617
Subcutaneous Gammanorm® by pump or rapid push infusion: Impact of the device on quality of life in adult patients with primary immunodeficiencies.
Warnatz Klaus, et al. Clinical immunology (Orlando, Fla.) 2022 0 0. 108938
Common Variable Immunodeficiency Disorders as a Model for Assessing COVID-19 Vaccine Responses in Immunocompromised Patients.
Ameratunga Rohan, et al. Frontiers in immunology 2022 0 0. 798389
22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.
Xue Jiangyang et al. Translational pediatrics 2022 10(12) 3273-3281
Colchicine Against SARS-CoV-2 Infection: What is the Evidence?
Drosos Alexandros A, et al. Rheumatology and therapy 2022 0 0.
SARS-CoV-2 as a trigger of eosinophilic pneumonia.
Araújo M, et al. Pulmonology 2021 0 0. (1) 62-64
COVID-19 in patients with primary immunodeficiency.
Maródi László, et al. Orvosi hetilap 2022 0 0. (5) 166-170
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.
Abolhassani Hassan, et al. Journal of clinical immunology 2022 0 0.
Anti-factor H antibody associated hemolytic uremic syndrome following SARS-CoV-2 infection.
Khandelwal Priyanka, et al. Pediatric nephrology (Berlin, Germany) 2022 0 0.
Elimination of Aicardi Goutières Syndrome Protein SAMHD1 Activates Cellular Innate Immunity and Suppresses SARS-CoV-2 Replication.
Oo Adrian, et al. The Journal of biological chemistry 2022 0 0. 101635
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar Pe'er et al. American journal of obstetrics and gynecology 2022
Congenital and acquired defects of immunity: An ever-evolving story.
Castagnoli Riccardo, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022 0 0. 61-64
Ground glass opacities are not always COVID-19: a case of acute eosinophilic pneumonitis caused by daptomycin.
Valaiyapathi Rajalakshmi, et al. Lancet (London, England) 2022 0 0. (10321) 270
Salivary IgG to SARS-CoV-2 indicates seroconversion and correlates to serum neutralization in mRNA-vaccinated immunocompromised individuals.
Healy Katie, et al. Med (New York, N.Y.) 2022 0 0.
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Tangye Stuart G, et al. Journal of clinical immunology 2021 0 0. (3) 666-679
Therapeutic potential of colchicine in cardiovascular medicine: a pharmacological review.
Zhang Fan-Shun, et al. Acta pharmacologica Sinica 2022 0 0.
An appraisal of the frequency and severity of non-infectious manifestations in primary immunodeficiencies. A study of a national retrospective cohort of 1375 patients over 10 years.
Alligon Mickaël et al. The Journal of allergy and clinical immunology 2022
Comparison of diagnostic criteria for children with familial Mediterranean fever.
Akyol Onder Esra Nagehan et al. European journal of pediatrics 2022
Parental knowledge about familial Mediterranean fever: a cross-sectional study.
Yildirim Deniz Gezgin et al. The Turkish journal of pediatrics 2022 63(6) 1048-1055
Asymptomatic SARS-CoV-2 seropositivity: patients with childhood-onset rheumatic diseases versus healthy children.
Haslak Fatih, et al. Clinical rheumatology 2022 0 0.
Covid-19 in a patient with Familial Hemophagocytic Lymphohistiocytosis in children.
Üzel V Hülya, et al. The Turkish journal of pediatrics 2022 0 0. (6) 1103-1107
Eosinophil-mediated lung inflammation associated with elevated natural killer T cell response in COVID-19 patients.
Kim Dong-Min, et al. The Korean journal of internal medicine 2021 0 0. (1) 201-209
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink Kim et al. Frontiers in immunology 2022 12780134
T cell responses to SARS-CoV-2 in healthy controls and primary immunodeficiency patients.
Awuah Arnold, et al. Clinical and experimental immunology 2022 0 0.
COVID-19: a trigger for severe thrombotic microangiopathy in a patient with complement gene variant.
Pinte Larisa, et al. Romanian journal of internal medicine = Revue roumaine de medecine interne 2022 0 0.
Familial Mediterranean fever and COVID-19. An ancient disease in a pandemic of the new millennium: is it an epiphenomenon of infection?
Sensoy Timur S, et al. Rheumatology advances in practice 2022 0 0. (3) rkab097
Potential Molecular Mechanisms and Remdesivir Treatment for Acute Respiratory Syndrome Corona Virus 2 Infection/COVID 19 Through RNA Sequencing and Bioinformatics Analysis.
Prashanth G, et al. Bioinformatics and biology insights 2022 0 0. 11779322211067365
Global perceptions of the current and future impacts of COVID-19 on hereditary angioedema management.
Grivcheva-Panovska Vesna, et al. Allergy and asthma proceedings 2022 0 0. (1) e1-e10
Early experience of COVID-19 vaccine-related adverse events among adolescents and young adults with rheumatic diseases: A single-center study.
Haslak Fatih, et al. International journal of rheumatic diseases 2022 0 0.
TELO-SCOPE study: a randomised, double-blind, placebo-controlled, phase 2 trial of danazol for short telomere related pulmonary fibrosis.
Mackintosh John A, et al. BMJ open respiratory research 2021 0 0. (1)
Advances in clinical outcomes: what we have learned during the COVID-19 pandemic.
Al-Musa Amer, et al. The Journal of allergy and clinical immunology 2021 0 0.
COVID-19 triggers attacks in HAE patients without worsening disease outcome.
Olivares María Margarita, et al. The journal of allergy and clinical immunology. In practice 2021 0 0.
Immunogenicity and Tolerability of COVID-19 mRNA Vaccines in PID patients with functional B-cell defects.
Pham Michele N, et al. The Journal of allergy and clinical immunology 2021 0 0.
Pediatric Atypical Hemolytic Uremic Syndrome Advances.
Raina Rupesh, et al. Cells 2021 0 0. (12)
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Efficacy and safety of canakinumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: A single-centre observational study.
Tomokawa Takuya et al. Modern rheumatology 2021
Low IgG trough and lymphocyte subset counts are associated with hospitalization for COVID-19 in patients with primary antibody deficiency.
Kuster John K, et al. The journal of allergy and clinical immunology. In practice 2021 0 0.
The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index.
Nordin Julia et al. Frontiers in immunology 2021 12780140
Case series: coronavirus disease 2019 infection as a precipitant of atypical hemolytic uremic syndrome: two case reports.
Kurian Christine J, et al. Journal of medical case reports 2021 0 0. (1) 587
Death Due to COVID-19 in an Infant with Combined Immunodeficiencies.
Ahanchian Hamid, et al. Endocrine, metabolic & immune disorders drug targets 2020 0 0. (9) 1649-1652
Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults.
Girona-Alarcon Mònica, et al. iScience 2021 0 0. 103595
Relevant mediators involved in and therapies targeting the inflammatory response induced by activation of the NLRP3 inflammasome in ischemic stroke.
Xu Qingxue, et al. Journal of neuroinflammation 2021 0 0. (1) 123
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency.
Lang-Meli Julia, et al. Journal of clinical immunology 2021 0 0.
Clinical course of COVID-19 infection in paediatric familial Mediterranean fever patients.
Kaya Akca Ummusen, et al. Modern rheumatology 2021 0 0.
Hemphagocytic Lymphohistiocytosis Secondary to COVID-19: A Case Report.
Naqvi Warda A, et al. Cureus 2021 0 0. (11) e19292
Risk Perception, Risk Involvement/Exposure And Compliance To Preventive Measures To COVID-19 Among Nurses In A Tertiary Hospital In Asaba, Nigeria.
Ezike Okwudili C, et al. International journal of Africa nursing sciences 2021 0 0. 100385
[Immunity to SARS CoV-2 - strengths and weaknesses].
Niehues Tim, et al. Deutsche medizinische Wochenschrift (1946) 2021 0 0. (24-25) 1624-1635
Establishing Newborn Screening for SCID in the USA; Experience in California.
Puck Jennifer M et al. International journal of neonatal screening 2021 7(4)
Future Perspectives of Newborn Screening for Inborn Errors of Immunity.
Blom Maartje et al. International journal of neonatal screening 2021 7(4)
How do patients and physicians communicate about hereditary angioedema in the United States?
Jain Gagan et al. PloS one 2021 16(12) e0260805
COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.
Veronez Camila Lopes, et al. Allergy and asthma proceedings 2021 0 0. (6) 506-514
SARS-CoV-2 infection in children with rheumatic disease: Experience of a tertiary referral center.
Sözeri Betül, et al. Archives of rheumatology 2021 0 0. (3) 381-388
Successful Anti-SARS-CoV-2 Spike Protein Antibody Response to Vaccination in MAGT1 Deficiency.
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2021 0 0. 21526567211056239
Longitudinal study of DNA methylation and epigenetic clocks prior to and following test-confirmed COVID-19 and mRNA vaccination
APS Pang et al, MEDRXIV, December 5, 2021
A phase I, first-in-human, randomized dose-escalation study of anti-activated factor XII monoclonal antibody garadacimab.
McKenzie Andrew, et al. Clinical and translational science 2021 0 0.
Safety and efficacy of the mRNA BNT162b2 vaccine against SARS-CoV-2 in five groups of immunocompromised patients and healthy controls in a prospective open-label clinical trial.
Bergman Peter, et al. EBioMedicine 2021 0 0. 103705
Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome.
Akahane Daigo, et al. Journal of clinical immunology 2021 0 0.
C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.
Aiello Sistiana, et al. Blood advances 2021 0 0.
Challenges in Diagnosing COVID-19 Related Disease in Pediatric Patients With Rheumatic Disease.
Sener Seher, et al. Modern rheumatology 2021 0 0.
Evaluation of COVID-19 vaccine breakthrough infections among immunocompromised patients fully vaccinated with BNT162b2.
Di Fusco Manuela, et al. Journal of medical economics 2021 0 0. (1) 1248-1260
A Rapid and Simple Multiparameter Assay to Quantify Spike-Specific CD4 and CD8 T Cells after SARS-CoV-2 Vaccination: A Preliminary Report.
Azgomi Mojtaba Shekarkar, et al. Biomedicines 2021 0 0. (11)
B Cell Response Induced by SARS-CoV-2 Infection Is Boosted by the BNT162b2 Vaccine in Primary Antibody Deficiencies.
Pulvirenti Federica, et al. Cells 2021 0 0. (11)
COVID-19 in children with inborn errors of immunity: clinical scenarios.
Moazzen Nasrin, et al. American journal of clinical and experimental immunology 2021 0 0. (3) 77-85
COVID-19 as a potential trigger of complement-mediated atypical HUS.
El Sissy Carine, et al. Blood 2021 0 0. (18) 1777-1782
Statistical analysis of the community lockdown for COVID-19 pandemic.
Wu Shaocong, et al. Applied intelligence (Dordrecht, Netherlands) 2021 0 0. 1-18
Thrombotic Microangiopathy Triggered by COVID-19: Case Reports.
Korotchaeva Julia, et al. Nephron 2021 0 0. 1-6
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency.
Arroyo-Sánchez Daniel, et al. Journal of clinical immunology 2021 0 0.
Assessment of COVID-19 Incidence and the Ability to Synthesise Anti-SARS-CoV-2 Antibodies of Paediatric Patients with Primary Immunodeficiency.
Pieniawska-Smiech Karolina, et al. Journal of clinical medicine 2021 0 0. (21)
Crosstalk between the renin-angiotensin, complement and kallikrein-kinin systems in inflammation.
Bekassy Zivile, et al. Nature reviews. Immunology 2021 0 0.
Persistent SARS-CoV-2 infection with repeated clinical recurrence in a patient with common variable immunodeficiency.
Cabañero-Navalon Marta Dafne, et al. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2021 0 0.
Transient increased immunoglobulin levels in a hyper-IgM syndrome patient with COVID-19 infection.
Safarirad Molood, et al. Allergologia et immunopathologia 2021 0 0. (6) 63-66
Treatment of chronic or relapsing COVID-19 in immunodeficiency.
Brown Li-An K, et al. The Journal of allergy and clinical immunology 2021 0 0.
Genetic screening techniques and diseases for neonatal genetic diseases.
Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435
The Assessment of Selected miRNA Profile in Familial Mediterranean Fever.
Kahraman Cigdem Yuce et al. BioMed research international 2021 20216495700
Social determinants of health and primary immunodeficiency.
Schejter Dr Yael Dinur et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021
The analysis of genotype-phenotype correlation in familial Mediterranean fever.
Öztürk Kübra et al. Pediatrics international : official journal of the Japan Pediatric Society 2021
Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data.
van den Akker-van Marle M Elske et al. International journal of neonatal screening 2021 7(3)
Evaluation of newborn screening for severe combined immunodeficiency (SCID).
Nightingale Rebecca et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2021 71(711) 456-457
Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.
Mantravadi Vasudha et al. Frontiers in immunology 2021 12734096
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Blom Maartje et al. The Journal of allergy and clinical immunology 2021
[Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].
Ishimura Masataka et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1327-1333
Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia Sofia et al. Genes 2021 12(8)
Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
Blagojevic Christina et al. CMAJ open 2021 9(3) E802-E809
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.
Blom Maartje et al. Journal of clinical immunology 2021
Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
St Martin Emma et al. American journal of hematology 2021
Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.
Cogley Michael F et al. International journal of neonatal screening 2021 7(3)
Newborn Screening in the Diagnosis of Primary Immunodeficiency.
Kobrynski Lisa J et al. Clinical reviews in allergy & immunology 2021
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Aleksandra Szczawinska-Poplonyk et al. Allergologia et immunopathologia 2021 49(4) 117-136
Hematopoietic Stem Cell Therapy for Wiskott-Aldrich Syndrome: Improved Outcome and Quality of Life.
Mallhi Kanwaldeep K et al. Journal of blood medicine 2021 12435-447
Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).
Smith Heather et al. Clinical immunology (Orlando, Fla.) 2021 229108778
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht Clair et al. Frontiers in immunology 2021 12665621
Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing.
Branch Anna et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
López-Nevado Marta et al. Frontiers in immunology 2021 12656356
Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report.
Bork Konrad et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2021 17(1) 40
Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.
Ameratunga Rohan et al. Clinical reviews in allergy & immunology 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim Henrik et al. Genome medicine 2021 13(1) 40
Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83
The management of heterozygous familial hypercholesterolaemia with high lipoprotein (a) and statin intolerance. The guidelines a mirage?
Dal Pino Beatrice et al. European journal of preventive cardiology 2021
PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.
Rider Nicholas L et al. PloS one 2021 16(2) e0237285
Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever.
Tirosh Irit et al. Rheumatology (Oxford, England) 2021 Feb
Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
Hall Michael J et al. Cancer prevention research (Philadelphia, Pa.) 2021 Jan
Novel genetic variants of inborn errors of immunity.
Almarzooqi Farida et al. PloS one 2021 16(1) e0245888
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009-2018).
Thorsen Julia et al. Journal of clinical immunology 2021 Jan
Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices.
Knight Vijaya et al. International journal of neonatal screening 2020 Jun 6(3)
The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.
Sheller Ruthanne et al. Frontiers in immunology 2020 11577853
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero Elisa et al. Enfermedades infecciosas y microbiologia clinica 2020 Nov 38(9) 438-443
Current Medical Management of Hereditary Angioedema: Follow-up Survey of US Physicians.
Riedl Marc A et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Oct
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies.
Segundo Gesmar Rodrigues Silva et al. Jornal de pediatria 2020 Oct
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct
Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood.
Aydin Fatma et al. Rheumatology international 2020 Oct
Review: Why screen for severe combined immunodeficiency disease?
Thomas C et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Sep
Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific.
Leung Daniel et al. Frontiers in immunology 2020 111605
Behçet disease (BD) and BD-like clinical phenotypes: NF-kB pathway in mucosal ulcerating diseases.
Perazzio Sandro F et al. Scandinavian journal of immunology 2020 Sep e12973
A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
Chinn Ivan K et al. Expert review of clinical immunology 2020 Aug
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
El Roz Ali et al. Medical sciences (Basel, Switzerland) 2020 Aug 8(3)
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink Kim et al. European journal of human genetics : EJHG 2020 Jul
Newborn Screening through TREC, TREC/KREC system for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive review.
Shinwari Khyber et al. Anti-inflammatory & anti-allergy agents in medicinal chemistry 2020 Jul
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417
The importance of Mediterranean fever gene in familial Mediterranean fever.
Kehribar Demet Yalçin et al. European journal of rheumatology 2020 Jul
Familial Mediterranean fever: What associations to screen for?
Bouomrani Salem et al. Reumatologia 2020 58(3) 150-154
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran James E D et al. Nature 2020 583(7814) 90-95
The Use of Interleukine-1 Inhibitors in Familial Mediterranean Fever Patients: A Narrative Review.
Hentgen Véronique et al. Frontiers in immunology 2020 11971
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro Mathieu et al. The Journal of allergy and clinical immunology 2020 Jun
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano Tsubasa et al. Journal of clinical immunology 2020 Jun
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun Jinqiao et al. Clinical & translational immunology 2020 May 9(5) e1138
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon Narissara et al. Frontiers in immunology 2020 11614
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp Hanne et al. Annals of the rheumatic diseases 2020 Apr
Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins Christopher J et al. Frontiers in immunology 2020 11464
Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population.
Frazer Lauren C et al. Pediatric research 2020 Apr
Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
Genetics of severe combined immunodeficiency.
Kumrah Rajni et al. Genes & diseases 2020 Mar 7(1) 52-61
Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States.
Tachdjian Raffi et al. Allergy and asthma proceedings 2020 Mar
Patient-reported burden of hereditary angioedema: findings from a US patient survey.
Banerji Aleena et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Mar
The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.
Quinn Jessica et al. Immunologic research 2020 Mar
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
Simon Amos J et al. Clinical immunology (Orlando, Fla.) 2020 Mar 108376
Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
The evaluation of anxiety, depression and quality of life scores of children and adolescents with familial Mediterranean fever.
Sönmez Arzu Önal et al. Rheumatology international 2020 Jan
Lentiviral gene therapy for X-linked chronic granulomatous disease
DB Kohn et al, Nature Medicine, January 27, 2020
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola Amarilla B et al. Frontiers in immunology 2019 102940
Familial Mediterranean fever is associated with increased risk for ischemic heart disease and mortality - perspective derived from a large database.
Gendelman Omer et al. International journal of clinical practice 2020 Jan e13473
Methodological quality of clinical practice guidelines for genetic testing in children: A systematic assessment using the appraisal of guidelines for research and evaluation II instrument.
Jiao Xue-Feng et al. Medicine 2019 Dec 98(52) e18521
Modeling Cost-Effectiveness of On-Demand Treatment for Hereditary Angioedema Attacks.
Bernstein Jonathan A et al. Journal of managed care & specialty pharmacy 2019 Dec 1-9
The International/Canadian Hereditary Angioedema Guideline.
Betschel Stephen et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2019 1572
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Schoenaker M H D et al. European journal of pediatrics 2019 Nov
First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).
Argudo-Ramírez Ana et al. Frontiers in immunology 2019 102406
Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade?
Kisla Ekinci Rabia Miray et al. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2019 Oct
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016
International consensus on the use of genetics in the management of hereditary angioedema.
Germenis Anastasios E et al. The journal of allergy and clinical immunology. In practice 2019 Oct
DiGeorge Syndrome Chromosome Region Deletion and Duplication: Prenatal Genotype-Phenotype Variability in Fetal Ultrasound and MRI.
Tramontana Allessandra et al. Prenatal diagnosis 2019 Oct
Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases.
Katsidzira Leolin et al. PloS one 2019 14(10) e0224023
Hereditary angioedema: a prospective study of a Brazilian single-center cohort.
Alonso Maria L O et al. International journal of dermatology 2019 Oct
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
van der Burg Mirjam et al. Frontiers in pediatrics 2019 7373
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
Wu Calvin C et al. The Journal of clinical endocrinology and metabolism 2017 102(9) 3111-3123
Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
Mo Wenyuan et al. Experimental hematology 2019 Sep
Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
Chinn Ivan K et al. The Journal of allergy and clinical immunology 2019 Sep
What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency.
Chong Hey J et al. Immunology and allergy clinics of North America 2019 Nov 39(4) 535-546
Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with the developed world.
Villavicencio Maria Fernanda et al. Current opinion in pediatrics 2019 Sep
Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening.
Patrawala Meera et al. Current opinion in allergy and clinical immunology 2019 Sep
Newborn Screening for Severe Combined Immunodeficiency.
Taki Mohammed et al. Pediatric clinics of North America 2019 Oct 66(5) 913-923
Practical Approach to Genetic Testing for Primary Immunodeficiencies.
Chinen Javier et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019 Aug
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.
Castagnoli Riccardo et al. Frontiers in pediatrics 2019 7295
Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study.
West Allison H et al. Cancer medicine 2019 Aug
The German National Registry of Primary Immunodeficiencies (2012-2017).
El-Helou Sabine M et al. Frontiers in immunology 2019 101272
Hereditary angioedema: Screening of first-degree blood relatives and earlier diagnosis.
Valle Solange O R et al. Allergy and asthma proceedings 2019 Jul 40(4) 279-281
Severe Combined Immunodeficiency: A Review for Neonatal Clinicians.
Michniacki Thomas F et al. NeoReviews 2019 Jun 20(6) e326-e335
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
Yska Hemmo A F et al. Journal of clinical immunology 2019 Jun
Jeffrey's Parents Did Something
by Debra Moffitt, CSL Behring, June 27, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts Peer et al. Genome medicine 2019 Jun (1) 38
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.
Bodian Dale L et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2019 1532
Hereditary angioedema, emergency management of attacks by a call center.
Javaud Nicolas et al. European journal of internal medicine 2019 May
Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi Cristina et al. Frontiers in immunology 2019 10316
Experimental gene therapy frees ‘bubble-boy’ babies from a life of isolation- Treatment restores immune-system function in young children with severe disorder.
H Ledford, Nature, April 17, 2019
Gene therapy restores immunity in infants with rare immunodeficiency disease
NIH News, April 17, 2019
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
Mamcarz Ewelina et al. The New England journal of medicine 2019 Apr (16) 1525-1534
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.
Thomas Caroline et al. Clinical immunology (Orlando, Fla.) 2019 Apr 20233-39
Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis.
Hays Laura H et al. Public health nursing (Boston, Mass.) 2019 Apr
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
The impact of hereditary angioedema on quality of life and family planning decisions.
Kuman Tunçel Özlem et al. International journal of psychiatry in medicine 2019 Mar 91217419837068
A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Abolhassani Hassan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(1) 243-251
Clinical profile and quality of life of Puerto Ricans with hereditary angioedema.
Arce-Ayala Yanira M et al. Allergy and asthma proceedings 2019 Mar 40(2) 103-110
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri Jahnavi et al. Frontiers in immunology 2019 1023
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan Ilker et al. Rheumatology international 2019 Feb
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power Bradley et al. Orphanet journal of rare diseases 2019 14(1) 52
Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
The Alluring Mirage Of Digital Health
J Osborne, Forbes, February 18, 2019
The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 2019 Feb
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz Waleed et al. Frontiers in immunology 2018 93146
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
Amatuni George S et al. Pediatrics 2019 Jan
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017
G Amatuni et al, Pediatrics, January 25, 2019
Now Is the Time to Use Molecular Gene Testing for the Diagnosis of Primary Immune Deficiencies.
Heimall Jennifer et al. The journal of allergy and clinical immunology. In practice 2019 Jan
Lessons Learned from Newborn Screening in Pilot Studies.
Taylor Jennifer L et al. North Carolina medical journal 80(1) 54-58
Comparison of the efficacy and safety of tocilizumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: study protocol for an investigator-initiated, multicenter, randomized, double-blind, placebo-controlled trial.
Koga Tomohiro et al. Trials 2018 Dec 19(1) 715
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck Jennifer M et al. Immunological reviews 2019 Jan 287(1) 241-252
The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.
Charest-Morin Xavier et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1483
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in TP63 gene in Arrhythmogenic Cardiomyopathy patients.
Poloni Giulia et al. Heart rhythm 2018 Nov
Familial Mediterranean fever: breaking all the (genetic) rules.
Stella Alessandro et al. Rheumatology (Oxford, England) 2018 Nov
Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.
Heimall Jennifer et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 129-140
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Dorsey Morna J et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 1-11
Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.
Hoang Tiffany K et al. European journal of rheumatology 2018 Nov 1-7
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Bu Fengxiao et al. Journal of the American Society of Nephrology : JASN 2018 Oct
Practicalities of a reduced volume formulation of a C1-INH concentrate for the treatment of hereditary angioedema: real-life experience.
Dempster John et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1444
Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
Li Ran et al. BioMed research international 2018 20183724630
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Leung Gordon K C et al. BMC medical genomics 2018 Oct 11(1) 93
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis.
Giavina-Bianchi Pedro et al. Clinics (Sao Paulo, Brazil) 2018 73e310
Clinical and genetic analysis of a rare syndrome associated with neoteny.
Walker Richard F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(5) 495-502
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever.
Sönmezgöz Ergün et al. Biochemical genetics 2018 Oct
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones Elizabeth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.
Rubin Tamar S et al. Journal of clinical immunology 2018 Oct
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
Liao Hsuan-Chieh et al. The Journal of pediatrics 2018 Sep
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).
Audrain Marie A P et al. Journal of clinical immunology 2018 Sep
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Laver Thomas W et al. Clinical endocrinology 2018 Aug
Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.
Horovitz Yoseph et al. International journal of rheumatic diseases 2018 Mar 21(3) 755-760
The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Chinn Ivan K et al. Current opinion in pediatrics 2018 Sep
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
Kohn Donald B et al. The Journal of allergy and clinical immunology 2018 Sep
National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality.
Voskaridou Ersi et al. Annals of hematology 2018 Sep
The patient journey to diagnosis and treatment of autoinflammatory diseases.
Hausmann Jonathan S et al. Orphanet journal of rare diseases 2018 Sep 13(1) 156
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Alsultan Abdulrahman et al. Genetic testing and molecular biomarkers 2018 Sep
Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018
Current and emerging therapies to prevent hereditary angioedema attacks.
Lumry William R et al. The American journal of managed care 2018 Aug 24(14 Suppl) S299-S307
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
Puck Jennifer M et al. The Hastings Center report 2018 Jul 48 Suppl 2S7-S9
Severity of hereditary angioedema, prevalence, and diagnostic considerations.
Bernstein Jonathan A et al. The American journal of managed care 2018 Aug 24(14 Suppl) S292-S298
Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in South China.
Xia Yu et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018 Aug
The miRNA Mirage: How Close Are We to Finding a Non-Invasive Diagnostic Biomarker in Endometriosis? A Systematic Review.
Agrawal Swati et al. International journal of molecular sciences 2018 Feb 19(2)
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo Teresa et al. Research and practice in thrombosis and haemostasis 2017 Jul 1(1) 69-80
Non-response to colchicine in familial Mediterranean fever should be identified accurately.
Melikoglu Meltem A et al. International journal of rheumatic diseases 2017 Dec 20(12) 2118-2121
She had a lot of rashes, but donÂ’t all kids?
SG Boodman, Washington Post, July 2018
Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.
West Allison H et al. Hematology. American Society of Hematology. Education Program 2017 2017(1) 79-87
Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.
Valencic Erica et al. Current medicinal chemistry 2018 25(24) 2764-2782
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
Kojima Daiei et al. The Journal of allergy and clinical immunology 2016 138(1) 303-305.e3
Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
Aygören-Pürsün Emel et al. The New England journal of medicine 2018 Jul 379(4) 352-362
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients.
Karaca Neslihan Edeer et al. International journal of immunopathology and pharmacology 322058738418779458
Canadian Physician Survey on the Medical Management of Hereditary Angioedema.
Fu Lisa et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2018 Jun
Clinicopathologic Characterization of Breast Carcinomas in Patients with Non-BRCA Germline Mutations: Results from a Single Institution's High Risk Population.
Meiss Alice E et al. Human pathology 2018 Jun
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Nourizadeh Maryam et al. Scandinavian journal of immunology 2018 Jun e12699
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin Atil et al. BioMed research international 2018 20189647253
Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.
Ferrua Francesca et al. Human gene therapy 2017 Nov 28(11) 972-981
SCID Newborn Screening Campaign
Immune Deficiency Foundation, 2018
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules Gedeon et al. Gene 2018 Aug 66776-82
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Li Y et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 May 39(5) 414-419
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7
Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes.
Modell Vicki et al. Immunologic research 2018 May
Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital.
Fallah Shahrzad et al. Iranian journal of allergy, asthma, and immunology 2018 Apr 17(2) 201-207
The genetics of aniridia - simple things become complicated.
Wawrocka Anna et al. Journal of applied genetics 2018 May 59(2) 151-159
Updates in Newborn Screening.
Rajabi Farrah et al. Pediatric annals 2018 May 47(5) e187-e190
Ataxia-telangiectasia gene ( ATM ) mutation heterozygosity in breast cancer: a narrative review.
Jerzak K J et al. Current oncology (Toronto, Ont.) 2018 Apr 25(2) e176-e180
Achondroplasia and severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center
Adenosine deaminase deficiency
From NCATS Genetic and Rare Diseases Information Center
Aicardi-Goutieres syndrome type 1
From NCATS Genetic and Rare Diseases Information Center
Aicardi-Goutieres syndrome type 2
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Aicardi-Goutieres syndrome type 3
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Aicardi-Goutieres syndrome type 4
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Aicardi-Goutieres syndrome type 5
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Arthrogryposis and ectodermal dysplasia
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Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
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Ataxia telangiectasia
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Atypical hemolytic uremic syndrome
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Autoimmune lymphoproliferative syndrome
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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
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Autoimmune pulmonary alveolar proteinosis
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Autosomal dominant hyper IgE syndrome
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Autosomal recessive hyper IgE syndrome
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Barth syndrome
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BENTA disease
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C1q deficiency
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Camera Marugo Cohen syndrome
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Cartilage-hair hypoplasia
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Chediak-Higashi syndrome
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Cherubism
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Chronic granulomatous disease
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Cohen syndrome
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Common variable immunodeficiency
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Congenital ectodermal dysplasia with hearing loss
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Congenital pulmonary alveolar proteinosis
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Cryopyrin-associated periodic syndrome
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Cyclic neutropenia
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Dianzani autoimmune lymphoproliferative syndrome
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DOCK2 Deficiency
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Dyskeratosis congenita
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Dyskeratosis congenita autosomal dominant
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Dyskeratosis congenita autosomal recessive
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Dyskeratosis congenita X-linked
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Ectodermal dysplasia
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Ectodermal dysplasia alopecia preaxial polydactyly
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Ectodermal dysplasia arthrogryposis diabetes mellitus
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Ectodermal dysplasia Bartalos type
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Ectodermal dysplasia Berlin type
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Ectodermal dysplasia blindness
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Ectodermal dysplasia intellectual disability CNS malformation
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Ectodermal dysplasia Margarita type
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Ectodermal dysplasia neurosensory deafness
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Ectodermal dysplasia skin fragility syndrome
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Ectodermal dysplasia trichoodontoonychial type
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Ectodermal dysplasia with natal teeth Turnpenny type
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Ectodermal dysplasia, hidrotic, Christianson-Fourie type
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Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
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Epidermodysplasia verruciformis
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Factor 2 deficiency
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Factor V deficiency
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Factor VII deficiency
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Factor X deficiency
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Factor XI deficiency
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Factor XII deficiency
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Factor XIII deficiency
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Familial cold autoinflammatory syndrome
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Familial Mediterranean fever
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Gamma-cystathionase deficiency
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GATA2 deficiency
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Gay Feinmesser Cohen syndrome
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Glycogen storage disease type 1B
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Griscelli syndrome type 1
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Griscelli syndrome type 2
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Griscelli syndrome type 3
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Hereditary angioedema
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Hermansky Pudlak syndrome 2
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Hermansky-Pudlak syndrome
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Herpes simplex encephalitis
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Hyper IgE syndrome
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Hyper-IgD syndrome
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Hypereosinophilic syndrome
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Hypohidrotic ectodermal dysplasia autosomal dominant
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Hypohidrotic ectodermal dysplasia autosomal recessive
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Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
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Hypohidrotic ectodermal dysplasia with immune deficiency
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Immunodeficiency with thymoma
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Immunodeficiency without anhidrotic ectodermal dysplasia
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Insulin-like growth factor I deficiency
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IRAK-4 deficiency
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Kabuki syndrome
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Leukocyte adhesion deficiency type 1
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Loeys-Dietz syndrome
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Loeys-Dietz syndrome type 1
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Loeys-Dietz syndrome type 2
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Loeys-Dietz syndrome type 3
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Loeys-Dietz syndrome type 4
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Majeed syndrome
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MED13L haploinsufficiency syndrome
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MHC class 1 deficiency
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MIRAGE syndrome
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Muckle-Wells syndrome
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MYD88 deficiency
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Neutrophil-specific granule deficiency
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Nijmegen breakage syndrome
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Omenn syndrome
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Osteopetrosis
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Osteopetrosis and infantile neuroaxonal dystrophy
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Osteopetrosis autosomal dominant type 1
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Osteopetrosis autosomal recessive 1
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Osteopetrosis autosomal recessive 2
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Osteopetrosis autosomal recessive 3
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Osteopetrosis autosomal recessive 4
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Osteopetrosis autosomal recessive 5
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Osteopetrosis autosomal recessive 6
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Osteopetrosis autosomal recessive 7
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Otulipenia
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Papillon Lefevre syndrome
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Poikiloderma with neutropenia
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Prolidase deficiency
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Properdin deficiency
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Properdin deficiency, X-linked
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Reticular dysgenesis
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Richieri-Costa Guion-Almeida Cohen syndrome
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Roifman syndrome
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Schimke immunoosseous dysplasia
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Severe combined immunodeficiency
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Severe combined immunodeficiency due to complete RAG1/2 deficiency
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Severe combined immunodeficiency with sensitivity to ionizing radiation
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Severe combined immunodeficiency, atypical
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Severe congenital neutropenia autosomal dominant
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Severe congenital neutropenia X-linked
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Shwachman-Diamond syndrome
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Specific antibody deficiency
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Syndactyly ectodermal dysplasia cleft lip palate hand foot
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Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
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Transcobalamin 1 deficiency
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WHIM syndrome
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Wiedemann-Steiner syndrome
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Wiskott Aldrich syndrome
From NCATS Genetic and Rare Diseases Information Center
X-linked hypohidrotic ectodermal dysplasia
From NCATS Genetic and Rare Diseases Information Center
X-linked lymphoproliferative syndrome
From NCATS Genetic and Rare Diseases Information Center
X-linked lymphoproliferative syndrome 1
From NCATS Genetic and Rare Diseases Information Center
X-linked lymphoproliferative syndrome 2
From NCATS Genetic and Rare Diseases Information Center
X-linked severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center
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Host transcriptomics and machine learning for secondary bacterial infections in patients with COVID-19: a prospective, observational cohort study.
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Coronavirus Disease-2019 in the Immunocompromised Host.
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Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.
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Delmonte Ottavia M, et al. The Journal of allergy and clinical immunology 2023 0 0.
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Para-infectious brain injury in COVID-19 persists at follow-up despite attenuated cytokine and autoantibody responses.
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Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
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End stage renal disease in patient with microscopic polyangiitis and atypical hemolytic-uremic syndrome arose 3 weeks after the third dose of anti-SARS-CoV2 vaccine mRNA-1273: A case report with literature revision.
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Impact of COVID-19 on immunocompromised populations during the Omicron era: insights from the observational population-based INFORM study.
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The impact of the COVID-19 pandemic on early termination of ophthalmology clinical trials: A cross-sectional analysis of ClinicalTrials.gov.
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Hausburg Melissa A, et al. Clinical immunology communications 2023 0 0. 83-90
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Pereira Valerie J, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022 0 0. (11) 1505-1512
Antibody Production after COVID-19 Vaccination in Patients with Inborn Errors of Immunity.
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A rare complication of IgA vasculitis: renal and intestinal ischemia successfully treated with plasmapheresis.
Türkmen Seyma, et al. The Turkish journal of pediatrics 2023 0 0. (5) 868-873
Neurovirulent cytokines increase neuronal excitability in a model of coronavirus-induced neuroinflammation.
Rajayer Salil R, et al. Intensive care medicine experimental 2023 0 0. (1) 71
Anti-Inflammatory and Immunomodulatory Effect of High-Dose Immunoglobulins in Children: From Approved Indications to Off-Label Use.
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Coronavirus disease 2019-associated thrombotic microangiopathy treated with plasma exchange and antihypertensive therapy in a patient with HIV: A case report with literature review.
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Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.
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ABX464 (obefazimod) for patients with COVID-19 at risk for severe disease: miR-AGE, a randomized, double-blind placebo-controlled trial.
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Hospital at Home meets need for new dialysis patients.
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Diagnosis of Bone Marrow Necrosis following Severe Vaso-Occlusive Crisis in Patient with Compound Heterozygous Sickle Cell Disease.
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Hyperinflammatory Immune Response in COVID-19: Host Genetic Factors in Pyrin Inflammasome and Immunity to Virus in a Spanish Population from Majorca Island.
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Impact of Treatment with Ustekinumab on Severe Infections in a Patient with Uncontrolled Psoriasis and Late-Onset Combined Primary Immunodeficiency: Case Report.
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Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19.
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Impact of MyD88 Deficiency on Innate Immune Function in COVID-19 Infection and Allotransplantation.
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Delayed post-COVID-19 hemophagocytic lymphohistiocytosis in patient with XIAP deficiency.
Chen Jonathan H, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023 0 0. (9) e14028
Patient-physician interactions in hereditary angioedema-Key learnings from the coronavirus disease 2019 pandemic.
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Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency.
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Familial Mediterranean fever during and post-COVID-19 pandemic.
Salehzadeh Farhad, et al. Rheumatology international 2023 0 0.
The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study.
Kolambage Yasas D, et al. Orphanet journal of rare diseases 2023 0 0. (1) 279
Impact of different classes of immune-modulating treatments on B cell-related and T cell-related immune response before and after COVID-19 booster vaccination in patients with immune-mediated diseases and primary immunodeficiency: a cohort study.
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Immune responses and safety of COVID-19 vaccination in atypical hemolytic uremic syndrome patients in Taiwan.
Chen I-Ru, et al. Vaccine 2023 0 0.
BNT162b2 Elicited an Efficient Cell-Mediated Response against SARS-CoV-2 in Kidney Transplant Recipients and Common Variable Immunodeficiency Patients.
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Role of the pioneer transcription factor GATA2 in health and disease.
Aktar Amena, et al. Journal of molecular medicine (Berlin, Germany) 2023 0 0.
Trends in the Epidemiology of Pneumocystis Pneumonia in Immunocompromised Patients without HIV Infection.
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Efficient screening strategies for severe combined immunodeficiencies in newborns.
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Hoste Levi, et al. Frontiers in pediatrics 2023 0 0. 1210181
Single-cell RNA sequencing and multiple bioinformatics methods to identify the immunity and ferroptosis related biomarkers of SARS-CoV-2 infections to ischemic stroke.
Zhao Xiang, et al. Aging 2023 0 0.
Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
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WASF3 disrupts mitochondrial respiration and may mediate exercise intolerance in myalgic encephalomyelitis/chronic fatigue syndrome.
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Response to SARS-CoV-2 initial series and additional dose vaccine in pediatric patients with predominantly antibody deficiency.
Tandon Megha, et al. Frontiers in immunology 2023 0 0. 1217718
Severity of SARS-CoV-2 infection in children with inborn errors of immunity (primary immunodeficiencies): a systematic review.
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Eosinophilic myocarditis: from etiology to diagnostics and therapy.
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Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies.
Nguyen Alan A, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
SARS-CoV-2 Infection and Response to COVID-19 Vaccination in Patients With Primary Immunodeficiencies.
Paris Robert, et al. The Journal of infectious diseases 2023 0 0. (Supplement_1) S24-S33
A Case Report of Hereditary Angioedema: Challenges in Diagnosis and Management.
Widhani Alvina, et al. Acta medica Indonesiana 2023 0 0. (2) 205-210
Exploring the Immunomodulatory Properties of Stem Cells in Combating COVID-19: Can We Expect More?
Mallis Panagiotis, et al. Bioengineering (Basel, Switzerland) 2023 0 0. (7)
Struggling with COVID-19 in Adult Inborn Errors of Immunity Patients: A Case Series of Combination Therapy and Multiple Lines of Therapy for Selected Patients.
Bez Patrick, et al. Life (Basel, Switzerland) 2023 0 0. (7)
Impaired Seroconversion After Severe Acute Respiratory Syndrome Coronavirus 2 mRNA Vaccine in Patients With Thymic Epithelial Tumors.
Pietroluongo Erica, et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2023 0 0.
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
Granzyme-A deficiency attenuates experimental osteoarthritis in mice, but perforin deficiency does not.
Calvo Jorge, et al. Joint diseases and related surgery 2023 0 0. (2) 271-278
The differential diagnosis value of radiomics-based machine learning in Parkinson's disease: a systematic review and meta-analysis.
Jiaxiang Bian et al. Front Aging Neurosci 2023 151199826
COVID-19 and severe pulmonary alveolar proteinosis (PAP): A case report.
Melhem Ahmad Basim, et al. Heliyon 2023 0 0. (7) e18099
COVID-19 severity: does the genetic landscape of rare variants matter?
Khadzhieva Maryam B, et al. Frontiers in genetics 2023 0 0. 1152768
Real-world assessment of immunogenicity in immunocompromised individuals following SARS-CoV-2 mRNA vaccination: a one-year follow-up of the prospective clinical trial COVAXID.
Chen Puran, et al. EBioMedicine 2023 0 0. 104700
New-onset and relapsed thrombotic microangiopathy post-COVID-19 vaccination.
Ma Qiqi, et al. Journal of medical virology 2023 0 0. (7) e28946
T Cell Abnormalities in X-Linked Agammaglobulinaemia: an Updated Review.
Chawla Sanchi, et al. Clinical reviews in allergy & immunology 2022 0 0. (1) 31-42
Management and outcome of COVID-19 in CTLA-4 insufficiency.
Ochoa Gonzalez Sebastian, et al. Blood advances 2023 0 0.
Knowledge mapping of COVID-19 and autoimmune diseases: a visual and bibliometric analysis.
Zhang Youao, et al. Clinical and experimental medicine 2023 0 0.
Editorial: Macrophage activation syndrome in children in the era of COVID-19.
Boyarchuk Oksana, et al. Frontiers in pediatrics 2023 0 0. 1222522
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Monica S Thakar et al. Lancet 2023
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade.
Yam-Puc Juan Carlos, et al. Nature communications 2023 0 0. (1) 3292
Vaccination prevents severe COVID-19 outcome in patients with neutralizing type 1 interferon autoantibodies.
Wolff Anette S B, et al. iScience 2023 0 0. (7) 107084
Meeting report: AT workshop 2023-A platform for discussing cutting-edge science in DNA damage signaling, repair, and human disorders.
Takata Minoru, et al. Genes to cells : devoted to molecular & cellular mechanisms 2023 0 0.
SARS-CoV-2 intrahost evolution in immunocompromised patients in comparison with immunocompetent populations after treatment.
Ahmadi Akram Sadat, et al. Journal of medical virology 2023 0 0. (6) e28877
Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Sevim Busra Korkmaz et al. Int J Immunogenet 2023
Efficacy of COVID-19 mRNA vaccination in patients with autoimmune disorders: humoral and cellular immune response.
Filippini Federica, et al. BMC medicine 2023 0 0. (1) 210
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters.
Piano Mortari Eva, et al. Frontiers in immunology 2023 0 0. 1194225
Genetic Determinants of the Acute Respiratory Distress Syndrome.
Suarez-Pajes Eva, et al. Journal of clinical medicine 2023 0 0. (11)
Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021
CDC Visual Abstracts, June 2023
Impact of COVID-19 Pandemic on Clinical Care of Patients and Psychosocial Health of Affected Families with Chronic Granulomatous Disease: an Observational Study from North India.
Vignesh Pandiarajan, et al. Journal of clinical immunology 2023 0 0.
Prolonged Disease Course of COVID-19 in a Patient with CTLA-4 Haploinsufficiency.
Hoffman T W, et al. Case reports in immunology 2023 0 0. 3977739
[Role of Complement in Kidney Diseases - New Aspects].
Zipfel Peter F, et al. Deutsche medizinische Wochenschrift (1946) 2023 0 0. (12) 774-779
Inherited STAT1 Deficiency in a Child with BCG-osis and Severe COVID-19 Pneumonia.
Guèye Mame Sokhna, et al. Journal of clinical immunology 2023 0 0.
Pneumocystis jirovecii and SARS-CoV-2 Coinfection as Presentation of X-linked Severe Combined Immunodeficiency.
Toledano-Revenga Javier, et al. Indian journal of pediatrics 2023 0 0.
Association of Inborn Errors of Immunity with Severe COVID-19 and Post-acute Sequelae of COVID-19.
Farmer Jocelyn R, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
Cytokine Response Following SARS-CoV-2 Antigen Stimulation in Patients with Predominantly Antibody Deficiencies.
Lucane Zane, et al. Viruses 2023 0 0. (5)
Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020-August 2021.
Drzymalla Emily, et al. Journal of clinical medicine 2023 0 0. (10)
T cell immunity following COVID-19 vaccination in adult patients with primary antibody deficiency - a 22-month follow-up.
Hurme Antti, et al. Frontiers in immunology 2023 0 0. 1146500
Immune Responses 6 Months After mRNA-1273 COVID-19 Vaccination and the Effect of a Third Vaccination in Patients with Inborn Errors of Immunity.
van Leeuwen Leanne P M, et al. Journal of clinical immunology 2023 0 0.
COVID-19 Pneumonia with Migratory Pattern in Agammaglobulinemic Patients: A Report of Two Cases and Review of Literature.
Degli Antoni Melania, et al. Tomography (Ann Arbor, Mich.) 2023 0 0. (3) 894-900
Detection of specific RBD IgG memory B cells by flow cytometry in healthcare workers and patients with inborn errors of immunity after BNT162b2 m RNA COVID-19 vaccination.
Del Pino Molina Lucía, et al. Frontiers in immunology 2023 0 0. 1136308
The Evolving Etiological and Epidemiological Portrait of Pericardial Disease.
Reddy Prajwal, et al. The Canadian journal of cardiology 2023 0 0.
TP53 Gain-of-Function and Non-Gain-of-Function Mutations Are Associated With Differential Prognosis in Advanced Pancreatic Ductal Adenocarcinoma.
Minggui Pan et al. JCO Precis Oncol 2023 7e2200570
Specific Cellular and Humoral Immune Responses to the Neoantigen RBD of SARS-CoV-2 in Patients with Primary and Secondary Immunodeficiency and Healthy Donors.
Mohamed Kauzar Mohamed, et al. Biomedicines 2023 0 0. (4)
Cellular immunity in COVID-19 and other infections in Common variable immunodeficiency.
Løken Ragnhild Øye, et al. Frontiers in immunology 2023 0 0. 1124279
Detection of SARS-CoV-2 Antibodies in Immunoglobulin Products.
Cousins Kimberley, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
Common Clinical and Molecular Pathways between Migraine and Sarcoidosis.
Tana Claudio, et al. International journal of molecular sciences 2023 0 0. (9)
[Pre-exposure prophylaxis of new COVID-19 coronavirus infection with tixagevimab/cilgavimab in adult Moscow patients with primary immunodeficiencies].
Roppelt A A, et al. Terapevticheskii arkhiv 2023 0 0. (1) 78-84
Post-COVID-19 Pulmonary Alveolar Proteinosis Treated Successfully with Whole Lung Lavage: A Rare Case Report.
Le-Khac Bao, et al. Pulmonary therapy 2023 0 0.
A Case of Autoimmune Pulmonary Alveolar Proteinosis that Improved after a COVID-19 Episode.
Yanagisawa Atsushi, et al. Internal medicine (Tokyo, Japan) 2023 0 0.
COVID-19 vaccination in patients with primary immunodeficiencies: an international survey on patient vaccine hesitancy and self-reported adverse events.
Pergent Martine, et al. Frontiers in immunology 2023 0 0. 1166198
SARS-CoV-2-induced adrenal crisis in a patient with autoimmune polyglandular syndrome type 1: case report.
Nyagolova Presiyana, et al. Folia medica 2023 0 0. (2) 305-310
Personalized diagnosis in suspected myocardial infarction.
Johannes Tobias Neumann et al. Clin Res Cardiol 2023
COVID-19 infection and vaccination in patients with hereditary angioedema: a multicentric study.
da Costa Farinha I F, et al. European annals of allergy and clinical immunology 2023 0 0.
COVID-19 relapse associated with SARS-CoV-2 evasion from CD4 T-cell recognition in an agammaglobulinemia patient.
Morita Ryo, et al. iScience 2023 0 0. (5) 106685
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency.
Verma Nisha, et al. Journal of clinical immunology 2023 0 0. 1-2
Cellular mechanisms and clinical applications for phenocopies of inborn errors of immunity: infectious susceptibility due to cytokine autoantibodies.
Sun Rui, et al. Expert review of clinical immunology 2023 0 0.
Multicentric Observational Study on Safety and Tolerability of COVID-19 Vaccines in Patients with Angioedema with C1 Inhibitor Deficiency: Data from Italian Network on Hereditary and Acquired Angioedema (ITACA).
Parente Roberta, et al. Vaccines 2023 0 0. (4)
Multifactorial White Matter Damage in the Acute Phase and Pre-Existing Conditions May Drive Cognitive Dysfunction after SARS-CoV-2 Infection: Neuropathology-Based Evidence.
Gelpi Ellen, et al. Viruses 2023 0 0. (4)
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.
Jovanka R King et al. Int J Neonatal Screen 9(2)
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
Sikha Singh et al. Int J Neonatal Screen 9(2)
Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay.
Elizabeth Reynolds et al. J Dev Behav Pediatr
Monkeypox (mpox) in immunosuppressed patients.
Ahmed Sirwan Khalid, et al. F1000Research 2023 0 0. 127
Machine learning-based in-hospital mortality risk prediction tool for intensive care unit patients with heart failure.
Zijun Chen et al. Front Cardiovasc Med 101119699
Case Report: Autoimmune Pulmonary Alveolar Proteinosis after COVID-19: A Report of Two Cases.
Saraswat Aatish, et al. The American journal of tropical medicine and hygiene 0 0 0.
Editorial: Updates on the complement system in kidney diseases.
Bulla Roberta, et al. Frontiers in immunology 0 0 0. 1196487
Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series.
Simard Marie-Lee, et al. Journal of clinical immunology 0 0 0.
Recurrent or unusual infections in children - when to worry about inborn errors of immunity.
Reilly Liam, et al. Therapeutic advances in infectious disease 0 0 0. 20499361231162978
Secondary immunodeficiencies related to the presence of anti-cytokine autoantibodies.
Cortes-Acevedo Paulina, et al. Gaceta medica de Mexico 0 0 0. (2) 154-160
Validity of diagnoses of respiratory diseases recorded in a Japanese administrative database.
Awano Nobuyasu, et al. Respiratory investigation 2023 0 0. (3) 314-320
Hyepereosiniphilic syndrome and COVID-19: 2 case reports.
Sherafati Alborz, et al. Journal of cardiothoracic surgery 0 0 0. (1) 158
Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job's syndrome.
Carrabba Maria, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 0 0 0. (1) 32
Use of Monoclonal Antibodies in a Pediatric Patient With Severe Combined Immunodeficiency and Persistent SARS-CoV-2 Infection.
Bermejo-Gómez Amanda, et al. The Pediatric infectious disease journal 0 0 0.
Inborn Error of STAT2-Dependent IFN-I Immunity in a Patient Presented with Hemophagocytic Lymphohistiocytosis and Multisystem Inflammatory Syndrome in Children.
López-Nevado Marta, et al. Journal of clinical immunology 0 0 0.
Hemophagocytic Syndrome and COVID-19: A Comprehensive Review.
Fadlallah Mahdi M, et al. Cureus 2023 0 0. (3) e36140
Host genetics and gut microbiota composition: Baseline gut microbiota composition as a possible prognostic factor for the severity of COVID-19 in patients with familial Mediterranean fever disease.
Tsaturyan Vardan, et al. Frontiers in microbiology 2023 0 0. 1107485
SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.
Raphael Allon, et al. Frontiers in immunology 2023 0 0. 1156823
SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Show Markedly Reduced Cross-reactivities Against Omicron Variants.
Lindahl Hannes, et al. Journal of clinical immunology 2023 0 0.
Pitfalls of Thrombotic Microangiopathies in Children: Two Case Reports and Literature Review.
Mocanu Adriana, et al. Diagnostics (Basel, Switzerland) 2023 0 0. (7)
Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.
H Silvén et al. Human reproduction (Oxford, England) 2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses.
Gang Peng et al. Molecular genetics & genomic medicine 2023 e2181
Shattering the Mirage: The FDA's Early COVID-19 Pandemic Response Demonstrates a Need for Reform to Restore Agency Credibility.
Fuleihan Christina, et al. American journal of law & medicine 2023 0 0. (4) 307-342
Cellular and humoral immunogenicity of the COVID-19 vaccine and COVID-19 disease severity in individuals with immunodeficiency.
Murray C E, et al. Frontiers in immunology 2023 0 0. 1131604
Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening.
Melissa Raspa et al. European journal of human genetics : EJHG 2023 1-7
Explanatory predictive model for COVID-19 severity risk employing machine learning, shapley addition, and LIME.
Laatifi Mariam, et al. Scientific reports 2023 0 0. (1) 5481
Serum amyloid A-A potential therapeutic target for hyper-inflammatory syndrome associated with COVID-19.
Almusalami Eman M, et al. Frontiers in medicine 2023 0 0. 1135695
New Presentation of CD27 Deficiency; Coronary Ectasia and COVID-19.
Golchehre Zahra, et al. Iranian journal of allergy, asthma, and immunology 2023 0 0. (1) 110-118
Defibrotide mitigates endothelial cell injury induced by plasmas from patients with COVID-19 and related vasculopathies.
Elhadad Sonia, et al. Thrombosis research 2023 0 0. 47-56
Efficacy and Safety of Garadacimab in Combination with Standard of Care Treatment in Patients with Severe COVID-19.
Papi Alberto, et al. Lung 2023 0 0.
End-Stage Kidney Disease Resulting from Atypical Hemolytic Uremic Syndrome after Receiving AstraZeneca SARS-CoV-2 Vaccine: A Case Report.
Tawhari Mohammed, et al. Vaccines 2023 0 0. (3)
Viral Vectors in Gene Therapy: Where Do We Stand in 2023?
Lundstrom Kenneth, et al. Viruses 2023 0 0. (3)
Hypereosinophilic Syndrome Following the BNT162b2 (BioNTech/Pfizer) Vaccine Successfully Treated with Mepolizumab: A Case Report and Review of the Literature.
Hoxha Ariela, et al. Journal of clinical medicine 2023 0 0. (6)
Mild COVID-19 in an APECED Patient with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and High Titer of Type 1 IFN-Abs: A Case Report.
Valenzise Mariella, et al. Pathogens (Basel, Switzerland) 2023 0 0. (3)
Favorable outcome of COVID-19 in pediatric patients with primary immunodeficiency.
Garkaby Jenny, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023 0 0. (3) e13928
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol Giorgia, et al. The Journal of clinical investigation 2023 0 0.
SARS-CoV-2 infection in a X-linked agammaglobulinemia adolescent: An immunological approach to treatment.
Stracuzzi Marta, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023 0 0. (3) e13921
Corrigendum: Elevated IFNA1 and suppressed IL12p40 associated with persistent hyperinflammation in COVID-19 pneumonia.
Jeon Kyeongseok, et al. Frontiers in immunology 2023 0 0. 1175767
Editorial: SARS-COV-2 infections within inborn errors of immunity populations.
Hanitsch Leif Gunnar, et al. Frontiers in immunology 2023 0 0. 1164045
IgG3 Antibody Response to COVID-19 Vaccination in a Patient With a Large Heavy Chain Deletion.
Sarkaria Sandeep, et al. Therapeutic advances in allergy and rhinology 2023 0 0. 27534030231156206
Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice
E Drzymalla et al, CDC Blog Post, March 27, 2023
Immunoglobulin repertoire restriction characterises the serological responses of patients with predominant antibody deficiency.
Troelnikov Alexander, et al. The Journal of allergy and clinical immunology 2023 0 0.
Challenges in the Management of Hereditary Angioedema in Urban and Rural Settings: Results of a US Survey.
J Allen Meadows et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023
[Viral diseases of the nervous system-Selected new and old viruses].
Meyding-Lamadé Uta, et al. Der Nervenarzt 2023 0 0.
Case report: Clearance of longstanding, immune-deficiency-associated, vaccine-derived polio virus infection following remdesivir therapy for chronic SARS-CoV-2 infection.
Bermingham William Hywel, et al. Frontiers in immunology 2023 0 0. 1135834
Idiopathic Granulomatous Mastitis as an Unusual Cause of Erythema Nodosum in a Malagasy Woman.
Rakotoarisaona Mendrika Fifaliana, et al. International medical case reports journal 2023 0 0. 159-165
Impaired B Cell Recall Memory and Reduced Antibody Avidity but Robust T Cell Response in CVID Patients After COVID-19 Vaccination.
Steiner Sophie, et al. Journal of clinical immunology 2023 0 0.
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Rafael Tesorero et al. PloS one 2023 18(3) e0283024
Burden of illness seen in hereditary angioedema in Japanese patients: Results from a patient reported outcome survey.
Beverley Yamamoto et al. Intractable & rare diseases research 2023 12(1) 35-44
Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.
Tatiana N Yuzyuk et al. Critical reviews in clinical laboratory sciences 2023 1-16
MEFV gene mutation spectrum in patients with familial mediterranean fever.
Hsin-Hui Wang et al. Pediatrics and neonatology 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Marta Santiago et al. Cancers 2023 15(5)
Effectiveness of vaccination against SARS-CoV-2 and the need for alternative preventative approaches in immunocompromised individuals: a narrative review of systematic reviews.
Tan Thuan Tong, et al. Expert review of vaccines 2023 0 0.
Human genetic and immunological determinants of SARS-CoV-2 and Epstein-Barr virus diseases in childhood: Insightful contrasts.
Pan-Hammarström Qiang, et al. Journal of internal medicine 2023 0 0.
Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Timothy J Craig et al. Lancet (London, England) 2023
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.
Tatiane Yanes et al. European journal of human genetics : EJHG 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Carsten Speckmann et al. Journal of clinical immunology 2023 1-14
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García Ana, et al. The Journal of experimental medicine 2023 0 0. (5)
A case report of Covid-19 in an autoimmune pulmonary alveolar proteinosis: An association in tune with the times!
Coirier Valentin, et al. Respiratory medicine case reports 2023 0 0. 101825
Case report: Virus-induced hemophagocytic lymphohistiocytosis in a patient with APECED.
Boyarchuk Oksana, et al. Frontiers in pediatrics 2023 0 0. 1086867
Concurrent hypereosinophilic syndrome and deep vein thrombosis after Pfizer-BioNTech COVID-19 vaccination: A case report.
Yano Shungo, et al. Clinical case reports 2023 0 0. (3) e7001
Relapse of atypical hemolytic uremic syndrome triggered by COVID-19: a lesson for the clinical nephrologist.
Uwatoko Ryuta, et al. Journal of nephrology 2023 0 0.
Hereditary Angioedema: Impact of COVID-19 pandemic stress upon disease related morbidity and well-being.
Christiansen Sandra C, et al. Allergy and asthma proceedings 2023 0 0. (2) 115-121
Relapsing COVID-19 infection as a manifestation of Good syndrome: a case report and literature review.
Wee Liang En, et al. International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2023 0 0. 236-239
Efficacy of Tixagevimab and Cilgavimab Against SARS-CoV-2 Infections in Patients with Inborn Errors of Immunity.
Johnson Sarah, et al. Journal of clinical immunology 2023 0 0.
Purpura Fulminans After Varicella Infection and Pulmonary Embolism After COVID-19 Infection in Familial Mediterranean Fever: Coincidence or Not?
Gezgin Yildirim Deniz, et al. Turkish archives of pediatrics 2023 0 0. (2) 234-236
Selective IgA Deficiency and COVID-19.
Magen Eli, et al. The journal of allergy and clinical immunology. In practice 2023 0 0.
Immunogenicity and Safety of Anti-SARS-CoV-2 mRNA Vaccines in a Cohort of Patients with Hereditary Angioedema.
Mormile Ilaria, et al. Vaccines 2023 0 0. (2)
Investigation of Neurological Complications after COVID-19 Vaccination: Report of the Clinical Scenarios and Review of the Literature.
Chen Wei-Ping, et al. Vaccines 2023 0 0. (2)
Long-Term Immunological Memory of SARS-CoV-2 Is Present in Patients with Primary Antibody Deficiencies for up to a Year after Vaccination.
Lucane Zane, et al. Vaccines 2023 0 0. (2)
Therapeutic Targeting of Inflammation and Virus Simultaneously Ameliorates Influenza Pneumonia and Protects from Morbidity and Mortality.
Pandey Pratikshya, et al. Viruses 2023 0 0. (2)
A beacon in the dark: COVID-19 course in CVID patients from two European countries: Different approaches, similar outcomes.
Milito Cinzia, et al. Frontiers in immunology 2023 0 0. 1093385
Fatal Puumala Hantavirus Infection in a Patient with Common Variable Immunodeficiency (CVID).
Steininger Philipp, et al. Microorganisms 2023 0 0. (2)
Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children.
Bucciol Giorgia, et al. The Journal of allergy and clinical immunology 2023 0 0.
Hereditary Angioedema with Normal C1 Esterase Inhibitor Refractory to Long-Term Prophylaxis: A Case Report.
Cobb Gavin, et al. Cureus 2023 0 0. (1) e33800
Wastewater surveillance of SARS-CoV-2 variants in October-November 2022 in Italy: Detection of XBB.1, BA.2.75 and rapid spread of the BQ.1 lineage.
G La Rosa et al. The Science of the total environment 2023 2 162339
Elevated IFNA1 and suppressed IL12p40 associated with persistent hyperinflammation in COVID-19 pneumonia.
Jeon Kyeongseok, et al. Frontiers in immunology 2023 0 0. 1101808
Safety and Tolerability of Evusheld in CVID patients: The Mayo Clinic Experience.
Squire Jacqueline D, et al. The journal of allergy and clinical immunology. Global 2023 0 0. 100081
Development of an Effective Immune Response in Adults With Down Syndrome After Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Vaccination.
Esparcia-Pinedo Laura, et al. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2022 0 0. (3) e155-e162
Hereditary Angioedema with Normal C1 Inhibitor: US Survey of Prevalence and Provider Practice Patterns.
Marc A Riedl et al. The journal of allergy and clinical immunology. In practice 2023
Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity.
García-García Ana, et al. Frontiers in immunology 2023 0 0. 1084630
Disseminated multidrug-resistant tuberculosis and SARS-CoV-2 co-infection in a child with IL-12Rβ1 deficiency.
San-Juan Daniel, et al. The Indian journal of tuberculosis 2023 0 0. (1) 129-133
Antibody and T-cell responses to COVID-19 Vaccination in Common Variable Immunodeficiency and Specific Antibody Deficiency.
Rosenthal Jamie A, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2023 0 0.
Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain Jérémie, et al. Cell 2023 0 0. (3) 621-645.e33
Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report.
Okido Marcos Masaru, et al. Fetal and pediatric pathology 2022 0 0. (1) 131-136
Common variable immunodeficiency with granulomatous-lymphocytic interstitial lung disease treated with monoclonal antibodies against COVID-19: A case report.
Lechner Christian, et al. Clinical case reports 2023 0 0. (1) e6776
Towards real-time monitoring of COVID-19 nosocomial clusters using SARS-CoV-2 genomes in a university hospital of the French Alps.
Gallouche Meghann, et al. Infectious diseases now 2023 0 0. 104650
Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.
Salehzadeh Farhad, et al. Iranian journal of medical sciences 2023 0 0. (1) 43-48
Recombinant GM-CSF for diseases of GM-CSF insufficiency: Correcting dysfunctional mononuclear phagocyte disorders.
Lazarus Hillard M, et al. Frontiers in immunology 2023 0 0. 1069444
Clinical Outcome of Coronavirus Disease 2019 in Patients with Primary Antibody Deficiencies.
Milota Tomas, et al. Pathogens (Basel, Switzerland) 2023 0 0. (1)
Current Evidence on Vaccinations in Pediatric and Adult Patients with Systemic Autoinflammatory Diseases.
Massaro Maria Grazia, et al. Vaccines 2023 0 0. (1)
A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain.
Zozaya Néboa et al. Global & regional health technology assessment 2023 914-21
Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.
Pinchevski-Kadir Shiran et al. Pediatric rheumatology online journal 2023 21(1) 4
COVID-19 Convalescent Plasma for the Treatment of Immunocompromised Patients: A Systematic Review and Meta-analysis.
Senefeld Jonathon W, et al. JAMA network open 2023 0 0. (1) e2250647
Eosinophilic pneumonia following Sinovac/CoronaVac vaccination. Comment on "Hypersensitivity reactions to COVID-19 vaccines: a case of eosinophilic pneumonia following Sinovac/CoronaVac vaccination".
Sookaromdee P, et al. European annals of allergy and clinical immunology 2022 0 0. (1) 46
Hypersensitivity reactions to COVID-19 vaccines: a case of Eosinophilic pneumonia following Sinovac/CoronaVac vaccination.
Ozturk A B, et al. European annals of allergy and clinical immunology 2022 0 0. (1) 41-45
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.
Abolhassani Hassan et al. Frontiers in immunology 2023 131032358
Colchicine treatment can be discontinued in a selected group of pediatric FMF patients.
Cohen Keren et al. Pediatric rheumatology online journal 2023 21(1) 2
Consensus on diagnosis and management of Hereditary Angioedema in the Middle East: A Delphi initiative.
Maurer Marcus et al. The World Allergy Organization journal 2023 16(1) 100729
COVID-19 and pulmonary alveolar proteinosis: an unusual combination.
Colares Philippe de Figueiredo Braga, et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2023 0 0. (1) e20220330
COVID-19 Severity, Cardiological Outcome, and Immunogenicity of mRNA Vaccine on Adult Patients With 22q11.2 DS.
Pulvirenti Federica, et al. The journal of allergy and clinical immunology. In practice 2022 0 0. (1) 292-305.e2
SARS-CoV-2 booster vaccination rescues attenuated IgG1 memory B cell response in primary antibody deficiency patients.
Lin Frank J, et al. Frontiers in immunology 2023 0 0. 1033770
Advances and Challenges of the Decade: The Ever-Changing Clinical and Genetic Landscape of Immunodeficiency.
Walter Jolan E, et al. The journal of allergy and clinical immunology. In practice 2023 0 0. (1) 107-115
COVID-19 in patients with pulmonary alveolar proteinosis: a European multicentre study.
Papiris Spyros A, et al. ERJ open research 2023 0 0. (1)
Diagnostic and therapeutic algorithms for monogenic autoinflammatory diseases presenting with recurrent fevers among adults.
Delplanque Marion et al. Rheumatology (Oxford, England) 2022
Humoral immunogenicity of COVID-19 vaccines in patients with coeliac disease and other noncoeliac enteropathies compared to healthy controls.
Scalvini Davide, et al. European journal of gastroenterology & hepatology 2022 0 0. (2) 167-173
Hereditary Angioedema and COVID-19 during Pregnancy- Two Case Reports.
Salih Amanda, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Population Risk Factors for Severe Disease and Mortality in COVID-19 in the United States during the Pre-Vaccine Era: A Retrospective Cohort Study of National Inpatient Sample.
Raj Kavin, et al. Medical sciences (Basel, Switzerland) 2022 0 0. (4)
COVID-19 vaccination and Atypical hemolytic uremic syndrome.
Bouwmeester Romy N, et al. Frontiers in immunology 2022 0 0. 1056153
Editorial: Dysregulation of immunity predisposing to severe COVID-19 infection.
Halwani Rabih, et al. Frontiers in immunology 2022 0 0. 1099089
Functionally impaired antibody response to BNT162b2 booster vaccination in CVID IgG responders.
Sauerwein Kai M T, et al. The Journal of allergy and clinical immunology 2022 0 0.
Chronic graft vs. host disease and hypogammaglobulinemia predict a lower immunological response to the BNT162b2 mRNA COVID-19 vaccine after allogeneic hematopoietic stem cell transplantation.
Barabino L, et al. European review for medical and pharmacological sciences 2022 0 0. (23) 8984-8989
Multi-omics identify falling LRRC15 as a COVID-19 severity marker and persistent pro-thrombotic signals in convalescence.
Gisby Jack S, et al. Nature communications 2022 0 0. (1) 7775
Clinical, laboratory, and chest radiographic characteristics of COVID-19 associated severe pediatric pneumonia. A retrospective study.
Asseri Ali A, et al. Saudi medical journal 2022 0 0. (12) 1390-1396
Experience with Sotrovimab treatment of SARS-CoV-2 infected patients in Denmark.
Rasmussen Line Dahlerup, et al. British journal of clinical pharmacology 2022 0 0.
Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity.
Tangye Stuart G, et al. The Journal of allergy and clinical immunology 2022 0 0.
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders.
Forlanini Federica et al. Journal of clinical immunology 2022
Case report: Evolution of pulmonary manifestations and virological markers in critical COVID-19 infection in Bruton's agammaglobulinemia.
Rise Nina, et al. Frontiers in immunology 2022 0 0. 1057065
NFKB2 haploinsufficiency identified via screening for IFNα2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications.
Bodansky Aaron, et al. The Journal of allergy and clinical immunology 2022 0 0.
The Interplay of COVID-19 and Hereditary Angioedema: Preventing an Acute Attack.
Park Erin G, et al. Cureus 2022 0 0. (9) e29189
Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.
Akcan Mehmet Berkay, et al. International journal of rheumatic diseases 2022 0 0.
SARS-COV-2 infections in inborn errors of immunity: A single center study.
Cousins Kimberley, et al. Frontiers in immunology 2022 0 0. 1035571
A rare onset in tumour necrosis factor receptor-associated periodic syndrome: recurrent macrophage activation syndrome triggered by COVID-19 infection.
Çaglayan Sengül, et al. Rheumatology (Oxford, England) 2022 0 0. (12) e366-e367
Contextual counters and multimodal Deep Learning for activity-level traffic classification of mobile communication apps during COVID-19 pandemic.
Guarino Idio, et al. Computer networks 2022 0 0. 109452
Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.
Nakayama Tomohiro, et al. Internal medicine (Tokyo, Japan) 2022 0 0.
Association of miR-144 levels in the peripheral blood with COVID-19 severity and mortality.
Madè Alisia, et al. Scientific reports 2022 0 0. (1) 20048
Correlation between Clinical and Immunological Variables and Humoral Response to SARS-CoV-2 Vaccination in Adult Patients with Antibody Deficiency Disorders.
Bracke Carmen, et al. Pathogens (Basel, Switzerland) 2022 0 0. (11)
Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.
Xue Huili et al. Scientific reports 2022 12(1) 19750
A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes.
Bastard Paul, et al. The Journal of experimental medicine 2022 0 0. (6)
Inborn Errors of Immunity on the Island of Ireland - a Cross-Jurisdictional UKPID/ESID Registry Report.
Ryan Paul, et al. Journal of clinical immunology 2022 0 0. (6) 1293-1299
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Peñafiel Vicuña Ana Karen, et al. Journal of clinical immunology 2022 0 0. 1-13
COMMON VARIABLE IMMUNODEFICIENCY: PREDISPOSING OR PROTECTIVE FACTOR FOR SEVERE COMPLICATIONS OF COVID-19?
Ferenc Thomas, et al. Acta clinica Croatica 2022 0 0. (1) 107-114
SARS-CoV-2 infection in the context of Kawasaki disease and multisystem inflammatory syndrome in children.
Folga Barbara Anna, et al. Medical microbiology and immunology 2022 0 0.
The oldest unvaccinated Covid-19 survivors in South America.
de Castro Mateus V, et al. Immunity & ageing : I & A 2022 0 0. (1) 57
Clinical outcomes, immunogenicity, and safety of BNT162b22 Vaccine in Primary Antibody Deficiency.
Milota Tomas, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Longitudinal Analyses after COVID-19 Recovery or Prolonged Infection Reveal Unique Immunological Signatures after Repeated Vaccinations.
Hisamatsu Daisuke, et al. Vaccines 2022 0 0. (11)
Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study.
Milito Cinzia, et al. Journal of clinical immunology 2022 0 0.
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia.
Lampson Benjamin L et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200269
Evaluation of the frequency and intensity of COVID-19 in patients with ankylosing spondylitis under anti-TNF therapy.
Türk Sümeyye Merve, et al. Turkish journal of medical sciences 2022 0 0. (2) 522-523
Atypical Hemolytic Uremic Syndrome Occurring After Receipt of mRNA-1273 COVID-19 Vaccine Booster: A Case Report.
Claes Kathleen J, et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2022 0 0.
Human type I IFN deficiency does not impair B cell response to SARS-CoV-2 mRNA vaccination.
Sokal Aurélien, et al. The Journal of experimental medicine 2022 0 0. (1)
The Uncomplicated Course of COVID-19 in Primary Immunodeficiency Patients: A Report of 14 Common Variable Immunodeficiency Patients.
Nabavi Mohammad, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (5) 594-599
Treatment of COVID-19 with convalescent plasma in patients with humoral immunodeficiency - Three consecutive cases and review of the literature.
Delgado-Fernández Marcial, et al. Enfermedades infecciosas y microbiologia clinica (English ed.) 2022 0 0. (9) 507-516
Positive perception of COVID-19 vaccination in HAE: No significant impact of vaccination on disease course.
Oztop Nida, et al. Allergy and asthma proceedings 2022 0 0. (6) 546-554
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.
Takanohashi Asako, et al. Molecular genetics and metabolism 2022 0 0. (4) 320-327
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature.
Akbar Asra, et al. BMJ case reports 2022 0 0. (11)
Kinetics of immune responses elicited after three mRNA COVID-19 vaccine doses in predominantly antibody-deficient individuals.
Ainsua-Enrich Erola, et al. iScience 2022 0 0. 105455
Alveolar Proteinosis in COVID-19: Clinical Case.
Martin Bote Silvia, et al. Case reports in pulmonology 2022 0 0. 1842566
The Multiple Faces of Nitric Oxide in Chronic Granulomatous Disease: A Comprehensive Update.
Garay Juan Agustín, et al. Biomedicines 2022 0 0. (10)
The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.
Baris Safa et al. The journal of allergy and clinical immunology. In practice 2022
Support vector machine deep mining of electronic medical records to predict the prognosis of severe acute myocardial infarction.
Zhou Xingyu et al. Frontiers in physiology 2022 13991990
Atypical hemolytic uremic syndrome triggered by mRNA vaccination against SARS-CoV-2: Case report.
Rysava Romana, et al. Frontiers in immunology 2022 0 0. 1001366
Coronavirus disease 2019 vaccination uptake and hesitancy among Polish patients with inborn errors of immunity, autoinflammatory syndromes, and rheumatic diseases: A multicenter survey.
Wiesik-Szewczyk Ewa, et al. Frontiers in immunology 2022 0 0. 1010899
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo Monica, et al. Frontiers in immunology 2022 0 0. 985433
A Validated Artificial Intelligence-based Pipeline for Population-Wide Primary Immunodeficiency Screening.
Rider Nicholas L et al. The Journal of allergy and clinical immunology 2022
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
David Odeya, et al. Journal of clinical immunology 2022 0 0.
Phenotype of BTK-lacking myeloid cells during prolonged COVID-19 and upon convalescent plasma.
Gomes André M C, et al. European journal of haematology 2022 0 0.
COVID-19 Vaccination Responses with Different Vaccine Platforms in Patients with Inborn Errors of Immunity.
Erra Lorenzo, et al. Journal of clinical immunology 2022 0 0.
JAK: Not Just Another Kinase.
Agashe Ruchi P, et al. Molecular cancer therapeutics 2022 0 0.
Monoclonal antibody treatment of COVID-19 in a pregnant woman with common variable immunodeficiency.
Aberumand Babak, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 0 0. (1) 91
COVID-19 in Chronic Granulomatosis Disease: A Case Report.
Esmaeilzadeh Hossein, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (4) 478-483
TIMELESS is a key gene mediating thrombogenesis in COVID-19 and antiphospholipid syndrome.
Zhang Wenjing, et al. Scientific reports 2022 0 0. (1) 17248
Coronavirus Disease 2019-Associated Thrombotic Microangiopathy: Literature Review.
Malgaj Vrecko Marija, et al. International journal of molecular sciences 2022 0 0. (19)
Maternal SARS-CoV-2 infection and aplasia cutis congenita in a newborn.
Jiang Y, et al. Journal of the European Academy of Dermatology and Venereology : JEADV 2022 0 0. (11) e868-e870
Selective IgA deficiency may be an under-recognized risk factor for severe COVID-19.
Ameratunga Rohan, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
COVID-19 in unvaccinated patients with inborn errors of immunity-polish experience.
Koltan Sylwia, et al. Frontiers in immunology 2022 0 0. 953700
Haploidentical CD3+ TCR αβ/CD19+ depleted HSCT for MHC Class II deficiency and persistent SARS-CoV-2 pneumonitis.
Ramanathan Subramaniam, et al. The journal of allergy and clinical immunology. Global 2022 0 0.
Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience.
Shields Adrian M, et al. Frontiers in immunology 2022 0 0. 984376
Outcome of SARS-CoV-2 infection among patients with common variable immunodeficiency and a matched control group: A Danish nationwide cohort study.
Katzenstein Terese L, et al. Frontiers in immunology 2022 0 0. 994253
Safety and immunogenicity of 3 doses of BNT162b2 and CoronaVac in children and adults with inborn errors of immunity.
Leung Daniel, et al. Frontiers in immunology 2022 0 0. 982155
Immunogenicity and Safety of the Spikevax® (Moderna) mRNA SARS-CoV-2 Vaccine in Patients with Primary Humoral Immunodeficiency.
Kralickova Pavlina, et al. International archives of allergy and immunology 2022 0 0. 1-14
Effectiveness and safety of lanadelumab in ethnic and racial minority subgroups of patients with hereditary angioedema: results from phase 3 studies.
Craig Timothy J et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 85
BNT162b2 coronavirus disease-2019 vaccination accelerated rheumatoid arthritis disease activity in chronic eosinophilic pneumonia: A case report.
Morikawa Moeko Murano, et al. Medicine 2022 0 0. (39) e30806
Reactogenicity and immunogenicity of the second COVID-19 vaccination in patients with inborn errors of immunity or mannan-binding lectin deficiency.
Göschl Lisa, et al. Frontiers in immunology 2022 0 0. 974987
Treating hereditary transthyretin amyloidosis: Present & future challenges.
Echaniz-Laguna A et al. Revue neurologique 2022
Gene Therapy Cargos Based on Viral Vector Delivery.
Lundstrom Kenneth, et al. Current gene therapy 2022 0 0.
Incidence and clinical course of COVID-19 in patients using omalizumab for chronic spontaneous urticaria and/or severe allergic asthma and using mepolizumab for severe eosinophilic asthma: A single center real life experience.
Yildiz Reyhan, et al. Tuberkuloz ve toraks 2022 0 0. (3) 231-241
MPN-024 Hypereosinophilic Syndrome: A Catastrophic Pediatric Case.
Bello Adriana, et al. Clinical lymphoma, myeloma & leukemia 2022 0 0. S322
Real-world comparative effectiveness of mRNA-1273 and BNT162b2 vaccines among immunocompromised adults identified in administrative claims data in the United States.
Mues Katherine E, et al. Vaccine 2022 0 0.
Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Presenting with Annular Erythema following COVID-19 Vaccination.
He Yifan, et al. Vaccines 2022 0 0. (9)
Atypical Hemolytic Uremic Syndrome after SARS-CoV-2 Infection: Report of Two Cases.
Smarz-Widelska Iwona, et al. International journal of environmental research and public health 2022 0 0. (18)
Role of Innate and Adaptive Cytokines in the Survival of COVID-19 Patients.
Monserrat Jorge, et al. International journal of molecular sciences 2022 0 0. (18)
Canakinumab might be Protective against Severe COVID-19 for Patients with Autoinflammatory Disorders.
Alkan Arif, et al. Mediterranean journal of rheumatology 2022 0 0. (2) 237-240
Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Wang Yu et al. JAMA cardiology 2022
Coronavirus Disease 2019-Associated Thrombotic Microangiopathy.
Malgaj Vrecko Marija, et al. Journal of hematology 2022 0 0. (4) 148-153
Frequency of Bacteremia and Urinary Tract Infection in Pediatric Renal Transplant Recipients.
Cruz Andrea T, et al. The Pediatric infectious disease journal 2022 0 0.
Genetic and immunological evaluation of children with inborn errors of immunity and severe or critical COVID-19.
Abolhassani Hassan, et al. The Journal of allergy and clinical immunology 2022 0 0.
A case of hemophagocytic lymphohistiocytosis following second dose of COVID-19 vaccination.
Park Hee Won, et al. Acta haematologica 2022 0 0.
Elucidating the enhanced binding affinity of a double mutant SP-D with trimannose on the influenza A virus using molecular dynamics.
Li Deng, et al. Computational and structural biotechnology journal 2022 0 0. 4984-5000
Outstanding Features of COVID-19 Overlapping Primary Immunodeficiency in Children.
Jiang Qi, et al. Immune network 2022 0 0. (4) e30
Prevalence and impact of misdiagnosed drug allergy labels among patients with hereditary angioedema.
Wong Jane Chi Yan et al. Frontiers in allergy 2022 3953117
Omicron SARS-CoV-2 Neutralization by Immunoglobulin Preparations Manufactured from Plasma Collected in the US and Europe.
Farcet Maria R, et al. The Journal of infectious diseases 2022 0 0.
Acute exacerbation of idiopathic hypereosinophilic syndrome following asymptomatic coronavirus disease 2019: a case report.
Suzuki Satoshi, et al. Journal of medical case reports 2022 0 0. (1) 324
Immunogenicity and Safety of mRNA Anti-SARS-CoV-2 Vaccines in Patients with Systemic Lupus Erythematosus.
Mormile Ilaria, et al. Vaccines 2022 0 0. (8)
SARS-CoV-2 infection and treatment in a cohort of patients with inborn errors of immunity.
Conti Francesca, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022 0 0. (8) e13833
Prospective study on the efficacy and impact of Cascade Screening and Evaluation of HAE (CaSE-HAE).
Wong Jane C Y et al. The journal of allergy and clinical immunology. In practice 2022
Clinical implications of host genetic variation and susceptibility to severe or critical COVID-19.
van der Made Caspar I et al. Genome medicine 2022 8 (1) 96
COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla Emily et al. Clinical immunology (Orlando, Fla.) 2022 8 109097
Common variable immunodeficiency and its inflammatory neurological manifestations: A case report and literature review.
Martins Bárbara, et al. Multiple sclerosis and related disorders 2022 0 0. 104086
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition.
Michniacki Thomas F, et al. Journal of clinical immunology 2022 0 0.
Antibody response following the third and fourth SARS-CoV-2 vaccine dose in individuals with common variable immunodeficiency.
Nielsen Bibi Uhre, et al. Frontiers in immunology 2022 0 0. 934476
Atypical HUS Triggered by COVID-19: A Case Report.
Tiwari Vaibhav, et al. Indian journal of nephrology 2022 0 0. (4) 367-370
Real-life data on monoclonal antibodies and antiviral drugs in Italian inborn errors of immunity patients during COVID-19 pandemic.
Garzi Giulia, et al. Frontiers in immunology 2022 0 0. 947174
Immunodeficiency syndromes differentially impact the functional profile of SARS-CoV-2-specific T cells elicited by mRNA vaccination.
Gao Yu, et al. Immunity 2022 0 0.
Newborn Tandem Mass Spectroscopy Screening for Adenosine Deaminase Deficiency-First Two Years' Experience.
Hartog Nicholas et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022
COVID-19 and Inborn Errors of Immunity.
Delmonte Ottavia M, et al. Physiology (Bethesda, Md.) 2022 0 0.
Plasma metabolome and cytokine profile reveal glycylproline modulating antibody fading in convalescent COVID-19 patients.
Yang Zhu, et al. Proceedings of the National Academy of Sciences of the United States of America 2022 0 0. (34) e2117089119
Response to mRNA COVID-19 vaccination in three XLA patients.
Squire J D, et al. Vaccine 2022 0 0.
The specialty of allergy and clinical immunology in Brazil.
de Mello Luane Marques, et al. Frontiers in allergy 2022 0 0. 933816
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine Hugo et al. American journal of human genetics 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446
Effectiveness of the BNT162b2 mRNA COVID-19 Vaccine among Adolescents with Juvenile-onset Inflammatory Rheumatic Diseases.
Ziv Amit, et al. Rheumatology (Oxford, England) 2022 0 0.
The COVID-19 Mirage: A Young Biologist With an Atypical Presentation of a Zoonotic Disease During the COVID-19 Pandemic.
Chiriboga Jose D, et al. Cureus 2022 0 0. (7) e26493
TRIM18 is a critical regulator of viral myocarditis and organ inflammation.
Fang Mingli, et al. Journal of biomedical science 2022 0 0. (1) 55
First allergy conference in Qatar: Let's explore allergy with a new lens.
Al-Nesf Maryam, et al. Qatar medical journal 2022 0 0. (2) 1
[Vaccination and Vaccination Response in Immunodeficiency].
Rohner Géraldine Blanchard, et al. Therapeutische Umschau. Revue therapeutique 2022 0 0. (6) 307-311
Hypereosinophilic syndrome onset with Loeffler's endocarditis after COVID-19 infection.
Mapelli Massimo, et al. European heart journal. Cardiovascular Imaging 2022 0 0.
COVID-19 vaccination rate and side effects in CVID patients over the age of 12.
Özdemir Öner, et al. Human vaccines & immunotherapeutics 2022 0 0. (5) 2068337
Impact of Covid-19 Pandemic on the Effectiveness of Outpatient Counseling in Childhood Obesity Management.
Corica Domenico, et al. Frontiers in endocrinology 2022 0 0. 879440
COVID-19 in Familial Mediterranean Fever: Clinical Course and Complications Related to Primary Disease.
Avanoglu Guler Aslihan, et al. Modern rheumatology 2022 0 0.
Whole lung lavage: Treating pulmonary alveolar proteinosis at the time of COVID pandemic.
Powers Katherine Jean, et al. Respiratory medicine case reports 2022 0 0. 101707
Characteristics of Patients Who Underwent a Diagnostic Test for Hereditary Angioedema Admitted Due to Angioedema.
Sengül Emeksiz Zeynep et al. Journal of tropical pediatrics 2022 68(4)
The mirage of domestic violence during COVID-19 pandemic in Nepal.
Bhandari Dilip, et al. Journal of global health 2022 0 0. 03049
[Patient with Good's syndrome and COVID-19. Report of a clinical case].
Maldonado-Domínguez Edwin Daniel, et al. Revista medica del Instituto Mexicano del Seguro Social 2022 0 0. (4) 474-479
Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant.
Narahari Prasanth G, et al. Journal of clinical immunology 2022 0 0.
Correspondence on "Safety of vaccination against SARS-CoV-2 in people with rheumatic and musculoskeletal diseases: results from the EULAR Coronavirus Vaccine (COVAX) physician-reported registry" by Machado et al.
Bourguiba Rim, et al. Annals of the rheumatic diseases 2022 0 0.
Case Report: Successful Treatment With Monoclonal Antibodies in One APDS Patient With Prolonged SARS-CoV-2 Infection Not Responsive to Previous Lines of Treatment.
Rivalta Beatrice, et al. Frontiers in immunology 2022 0 0. 891274
Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations.
Similuk Morgan N et al. The Journal of allergy and clinical immunology 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn Jessica et al. Frontiers in immunology 2022 13906540
Specific Antibody and the T-Cell Response Elicited by BNT162b2 Boosting After Two ChAdOx1 nCoV-19 in Common Variable Immunodeficiency.
Goda Vera, et al. Frontiers in immunology 2022 0 0. 907125
Passive immunization against COVID-19 by anti-SARS-CoV-2 spike IgG in commercially available immunoglobulin preparations in severe antibody deficiency.
Hirsiger Julia R, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Injection Effect of Anti-CD3 Monoclonal Antibody on Primo Vessel in Lymph Vessel of Rabbit with Lipopolysaccharide-Induced Inflammation.
Choi Sang-Heon, et al. Journal of acupuncture and meridian studies 2022 0 0. (1) 37-42
Case Report: A Severe Paediatric Presentation of COVID-19 in APDS2 Immunodeficiency.
Sanchez Clemente Nuria, et al. Frontiers in immunology 2022 0 0. 881259
Clinical and radiological improvement of protracted COVID-19 and Good syndrome secondary to advanced thymoma.
Cerezoli Milena Tenorio, et al. Pulmonology 2022 0 0.
Defining Clinical and Immunological Predictors of Poor Immune Responses to COVID-19 mRNA Vaccines in Patients with Primary Antibody Deficiency.
Shin Junghee Jenny, et al. Journal of clinical immunology 2022 0 0.
Immunizing the Imperfect Immune System: COVID-19 Vaccination in Patients with Inborn Errors of Immunity.
Durkee-Shock Jessica R, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
Increased Seroprevalence and Improved Antibody Responses Following Third Primary SARS-CoV-2 Immunisation: An Update From the COV-AD Study.
Shields Adrian M, et al. Frontiers in immunology 2022 0 0. 912571
SARS-CoV-2 infection in patients with inborn errors of immunity due to DNA repair defects.
Wang Yating, et al. Acta biochimica et biophysica Sinica 2022 0 0.
Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1.
Sills E Scott, et al. Global medical genetics 2022 0 0. (2) 124-128
Rare Variants in Inborn Errors of Immunity Genes Associated With Covid-19 Severity.
Liu Panhong, et al. Frontiers in cellular and infection microbiology 2022 0 0. 888582
Clinical impact and disease evolution of SARS-CoV-2 infection in familial Mediterranean fever.
Marinelli Francesca, et al. Pharmacological research 2022 0 0. 106293
mRNA vaccine boosting enhances antibody responses against SARS-CoV-2 Omicron variant in individuals with antibody deficiency syndromes.
Zimmerman Ofer, et al. Cell reports. Medicine 2022 0 0. 100653
Take a Leap of Faith: Implement Routine Genetic Testing in your Office.
Convers Kathryn D et al. The journal of allergy and clinical immunology. In practice 2022
22q11.2 Deletion and Duplication Syndromes and COVID-19.
Crowley T Blaine, et al. Journal of clinical immunology 2022 0 0. (4) 746-748
Epidemiological characteristics, clinical course, and laboratory investigation of pediatric COVID-19 patients in a Tertiary Care Center in Saudi Arabia.
Duabie Bayan, et al. International journal of pediatrics & adolescent medicine 2022 0 0.
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
Campbell Tessa Mollie, et al. The Journal of experimental medicine 2022 0 0. (7)
A case of pulmonary alveolar proteinosis misdiagnosed as COVID-19 pneumonia.
Sisman Mustafa, et al. Cirugia y cirujanos 2022 0 0. (3) 402-405
A single-center COVID-19 vaccine experience with CoronaVac and BNT162b2 in familial Mediterranean fever patients.
Güven Serdar Can, et al. International journal of rheumatic diseases 2022 0 0.
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.
Shields Adrian M, et al. Clinical and experimental immunology 2022 0 0.
Predictors of seroconversion following COVID-19 vaccination.
Chiarella Sergio E, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
Establishment of ICU Mortality Risk Prediction Models with Machine Learning Algorithm Using MIMIC-IV Database.
Pang Ke et al. Diagnostics (Basel, Switzerland) 2022 12(5)
Mortality in Severe Antibody Deficiencies Patients during the First Two Years of the COVID-19 Pandemic: Vaccination and Monoclonal Antibodies Efficacy.
Milito Cinzia, et al. Biomedicines 2022 0 0. (5)
SARS-CoV-2 Symptomatic reinfection Among Patients with Primary Antibody Deficiency.
Marcus Nufar, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Immune globulin therapy and kidney disease: Overview and screening, monitoring, and management recommendations.
Kobayashi Roger H, et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2022 0 0.
Secondary Complement Deficiency Impairs Anti-Microbial Immunity to Klebsiella pneumoniae and Staphylococcus aureus During Severe Acute COVID-19.
Ali Youssif M, et al. Frontiers in immunology 2022 0 0. 841759
The influence of familiarity on memory for faces and mask wearing.
Kollenda Diana, et al. Cognitive research: principles and implications 2022 0 0. (1) 45
Antibodies to SARS-CoV-2 in patients with primary immunodeficiencies treated with nonspecific immunoglobulins.
Eguía Jorge, et al. Immunology 2022 0 0.
Evaluation of Humoral and Cellular Immune Responses to the SARS-CoV-2 Vaccine in Patients With Common Variable Immunodeficiency Phenotype and Patient Receiving B-Cell Depletion Therapy.
Antolí Arnau, et al. Frontiers in immunology 2022 0 0. 895209
Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.
Díaz-Alberola Irene, et al. Journal of clinical medicine 2022 0 0. (9)
MAIT cell compartment characteristics are associated with the immune response magnitude to the BNT162b2 mRNA anti-SARS-CoV-2 vaccine.
Boulouis Caroline, et al. Molecular medicine (Cambridge, Mass.) 2022 0 0. (1) 54
Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib.
Pararajasingam Abirami, et al. Frontiers in pediatrics 2022 0 0. 837568
T-cell responses to SARS-CoV-2 in healthy controls and primary immunodeficiency patients.
Awuah Arnold, et al. Clinical and experimental immunology 2022 0 0. (3) 336-339
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant.
Lindahl Hannes, et al. Journal of clinical immunology 2022 0 0.
Acute Eosinophilic Pneumonia Following mRNA COVID-19 Vaccination: A Case Report.
Barrio Piqueras Miguel, et al. Archivos de bronconeumologia 2021 0 0. 53-54
COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI - the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases.
Bourguiba Rim, et al. RMD open 2022 0 0. (1)
Eosinophilic Pneumonia Associated to SARS-CoV-2 Vaccine.
Costa E Silva Margarida, et al. Archivos de bronconeumologia 2021 0 0. 51-52
Understanding attitudes and obstacles to vaccination against COVID-19 in patients with primary immunodeficiency.
Aberumand Babak, et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 0 0. (1) 38
Easy approach to detect cell immunity to COVID vaccines in common variable immunodeficiency patients.
Barrios Yvelise, et al. Allergologia et immunopathologia 2022 0 0. (3) 101-105
Atypical hemolytic uremic syndrome induced by SARS-CoV2 infection in infants with EXOSC3 mutation.
Van Quekelberghe Chantal, et al. Pediatric nephrology (Berlin, Germany) 2022 0 0.
COVID-19 Infection in Patients with Humoral Immunodeficiency: A Case Series and Literature Review.
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2022 0 0. 21526575221096044
Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report.
Chung Ming Hin, et al. Frontiers in pediatrics 2022 0 0. 794110
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review.
Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227
A Retrospective Analysis of Risk Factors Associated with the SARS-CoV-2 Breakthrough in Fully mRNA Vaccinated Individuals.
Liu Cong, et al. JMIR public health and surveillance 2022 0 0.
Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
Batu Ezgi Deniz et al. Current rheumatology reports 2022
Are Dyskeratosis Congenita patients at higher risk of symptomatic COVID-19?
Dorgaleleh Saeed, et al. Medical hypotheses 2022 0 0. 110843
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo Moisés, et al. Frontiers in immunology 2022 0 0. 881206
Comparisons of Clinical Features and Outcomes of COVID-19 between Patients with Pediatric Onset Inflammatory Rheumatic Diseases and Healthy Children.
Haslak Fatih, et al. Journal of clinical medicine 2022 0 0. (8)
STAT1 and Its Crucial Role in the Control of Viral Infections.
Tolomeo Manlio, et al. International journal of molecular sciences 2022 0 0. (8)
Eosinophilic pneumonia and COVID-19 vaccination.
May J, et al. QJM : monthly journal of the Association of Physicians 2022 0 0. (4) 251-252
Severe COVID-19 represents an undiagnosed primary immunodeficiency in a high proportion of infected individuals.
Gray Paul E, et al. Clinical & translational immunology 2022 0 0. (4) e1365
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet).
Giardino Giuliana, et al. Journal of clinical immunology 2022 0 0.
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Askarian Saeedeh et al. Oral and maxillofacial surgery 2022
Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.
Duncan Christopher J A, et al. The Journal of experimental medicine 2022 0 0. (6)
Impact of Primary Immunodeficiency Diseases on the Life Experiences of Patients in Malaysia From the Caregivers' Perspective: A Qualitative Study.
Ahmed Meelad Ruwaydah, et al. Frontiers in pediatrics 2022 0 0. 846393
Acute Cerebellitis and Myeloradiculitis Associated With SARS-CoV-2 Infection in Common Variable Immunodeficiency-A Case Report.
Lemus Hernan Nicolas, et al. The Neurohospitalist 2022 0 0. (2) 361-365
Immunogenicity of the mRNA-1273 COVID-19 vaccine in adult patients with inborn errors of immunity.
van Leeuwen Leanne P M, et al. The Journal of allergy and clinical immunology 2022 0 0.
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study.
Shields Adrian M, et al. Journal of clinical immunology 2022 0 0.
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson Parker C et al. Kidney360 2022 1(8) 772-780
A multicenter, open-label, randomized, proof-of-concept phase II clinical trial to assess the efficacy and safety of icatibant in patients infected with SARS-CoV-2 (COVID-19) and admitted to hospital units without invasive mechanical ventilation: study protocol (ICAT-COVID).
Malchair Pierre, et al. Trials 2022 0 0. (1) 303
Are covered faces eye-catching for us? The impact of masks on attentional processing of self and other faces during the COVID-19 pandemic.
Zochowska Anna, et al. Cortex; a journal devoted to the study of the nervous system and behavior 2022 0 0. 173-187
Specific T-cell responses for guiding treatment with convalescent plasma in severe COVID-19 and humoral immunodeficiency: a case report.
Nyström Katarina, et al. BMC infectious diseases 2022 0 0. (1) 362
Evaluation of Humoral and Cellular Responses in SARS-CoV-2 mRNA Vaccinated Immunocompromised Patients.
Oyaert Matthijs, et al. Frontiers in immunology 2022 0 0. 858399
Specific antibody response of 14 common variable immunodeficiency patients to three BNT162b2 mRNA COVID-19 vaccinations.
Abo-Helo Nizar, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
[A hemolytic episode following COVID-19 in a case with atypical hemolytic uremic syndrome].
Suzuki Kazutaka, et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2022 0 0. (3) 224-228
Masked face identification is improved by diagnostic feature training.
Carragher Daniel J, et al. Cognitive research: principles and implications 2022 0 0. (1) 30
Response to SARS-CoV-2 Initial Series and Additional Dose Vaccine in Patients with Predominant Antibody Deficiency.
Barmettler Sara, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Safety of SARS-CoV-2 vaccination in patients with Behcet's syndrome and familial Mediterranean fever: a cross-sectional comparative study on the effects of M-RNA based and inactivated vaccine.
Ozdede Ayse, et al. Rheumatology international 2022 0 0.
SARS-CoV-2-Specific and Functional Cytotoxic CD8 Cells in Primary Antibody Deficiency: Natural Infection and Response to Vaccine.
Gupta Sudhir, et al. Journal of clinical immunology 2022 0 0.
Response-Liminality and the Mirage of Settlement.
Hooker Claire, et al. Journal of bioethical inquiry 2022 0 0.
SARS-CoV-2 T Cell Response in Severe and Fatal COVID-19 in Primary Antibody Deficiency Patients Without Specific Humoral Immunity.
Steiner Sophie, et al. Frontiers in immunology 2022 0 0. 840126
Correction to: Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome.
Akahane Daigo, et al. Journal of clinical immunology 2022 0 0.
Common Variable Immunodeficiency in Elderly Patients: A Long-Term Clinical Experience.
Danieli Maria Giovanna et al. Biomedicines 2022 10(3)
Immunogenicity of a third COVID-19 messenger RNA vaccine dose in primary immunodeficiency disorder patients with functional B-cell defects.
Gernez Yael, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
Severe Acute Respiratory Distress Syndrome (ARDS) or Severely Increased Chest Wall Elastance?
Lindner Simon, et al. Cureus 2022 0 0. (2) e22541
Hemophagocytic Lymphohistiocytosis Gene Variants in Multisystem Inflammatory Syndrome in Children.
Vagrecha Anshul, et al. Biology 2022 0 0. (3)
Responses to SARS-CoV-2 Vaccines of Patients with Common Variable Immune Deficiencies and X-linked Agammaglobulinemia.
Carrabba Maria, et al. Journal of clinical immunology 2022 0 0.
A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders.
Tucci Francesca et al. Nature communications 2022 13(1) 1315
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.
O'Toole Dana et al. Journal of clinical immunology 2022
Human autoantibodies underlying infectious diseases.
Puel Anne, et al. The Journal of experimental medicine 2022 0 0. (4)
Secondary Hemophagocytic Lymphohistiocytosis in a Post-COVID-19 Patient.
Bandaru Sai Samyuktha, et al. Cureus 2022 0 0. (2) e22620
Frequency and Severity of COVID-19 in Patients with Various Rheumatic Diseases Treated Regularly with Colchicine or Hydroxychloroquine.
Oztas Mert, et al. Journal of medical virology 2022 0 0.
Health budget in light of pandemic: Health reforms from mirage to reality.
Jain Bhavna, et al. Journal of family medicine and primary care 2022 0 0. (1) 1-4
Insights From Early Clinical Trials Assessing Response to mRNA SARS-CoV-2 Vaccination in Immunocompromised Patients.
Baron Frédéric, et al. Frontiers in immunology 2022 0 0. 827242
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia.
Schidlowski Laire, et al. Journal of clinical immunology 2022 0 0.
Case Report: Tackling Complement Hyperactivation With Eculizumab in Atypical Hemolytic Uremic Syndrome Triggered by COVID-19.
Leone Valentina Fanny, et al. Frontiers in pharmacology 2022 0 0. 842473
Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity - Results From a Multicenter Nationwide Study.
Milota Tomas, et al. Frontiers in immunology 2022 0 0. 835770
Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers.
Kutsa Oksana et al. Frontiers in pediatrics 2022 10804709
The Effect of COVID-19 Pandemic on Patients with Primary Immunodeficiency: A Cohort Study.
Babaei Maryam, et al. Iranian journal of medical sciences 2022 0 0. (2) 162-166
Elevated CD21 B Cell Frequency Is a Marker of Poor Immunity to Pfizer-BioNTech BNT162b2 mRNA Vaccine Against SARS-CoV-2 in Patients with Common Variable Immunodeficiency.
Bergman Peter, et al. Journal of clinical immunology 2022 0 0.
Case Report: Pneumonia in a Patient With Combined Variable Immunodeficiency: COVID-19 or Pneumocystis Pneumonia?
Tehrani Shabnam, et al. Frontiers in medicine 2022 0 0. 814300
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
Barua Subit et al. Molecular cytogenetics 2022 15(1) 7
Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network.
Quinn Jessica et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 19
Antibody responses to inactivated and mRNA SARS-CoV-2 vaccines in familial Mediterranean fever patients treated with interleukin-1 inhibitors.
Ugurlu Serdal, et al. Rheumatology (Oxford, England) 2022 0 0.
Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.
Galletta Thomas J, et al. Pediatric blood & cancer 2022 0 0. e29647
COVID-19 Infection in Hypereosinophilic Syndrome: A survey-based analysis.
Espinoza David F, et al. The journal of allergy and clinical immunology. In practice 2022 0 0.
First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld syndrome.
Piazza I, et al. Progress in pediatric cardiology 2022 0 0. 101508
Antigen-Specific CD4 T-Cell Activation in Primary Antibody Deficiency After BNT162b2 mRNA COVID-19 Vaccination.
Sauerwein Kai M T, et al. Frontiers in immunology 2022 0 0. 827048
Do reduced numbers of plasmacytoid dendritic cells contribute to the aggressive clinical course of COVID-19 in chronic lymphocytic leukemia?
Smith C I Edvard, et al. Scandinavian journal of immunology 2022 0 0. e13153
Herpes simplex encephalitis following ChAdOx1 nCoV-19 vaccination: a case report and review of the literature.
Moslemi Mohammadreza, et al. BMC infectious diseases 2022 0 0. (1) 217
Neonatal COVID and Familial Hemophagocytic Lymphohistiocytosis.
Hon Kam Lun Ellis, et al. Pediatric emergency care 2022 0 0. (3) e1094-e1096
Safety of the BNT162b2 mRNA COVID-19 vaccine in patients with familial Mediterranean fever.
Shechtman Liran, et al. Rheumatology (Oxford, England) 2022 0 0.
Severe SARS-COV-2 infection in pediatric patient with atypical Hemolytic Uremic Syndrome: A case report.
Hamza Salih Boushra, et al. Annals of medicine and surgery (2012) 2022 0 0. 103400
The Diagnosis of Common Variable Immunodeficiency After Multisystem Dysfunction.
Rasul Taha F, et al. Cureus 2022 0 0. (1) e21624
COVID-19 Vaccination Safety and Tolerability in Patients Allegedly at High Risk for Immediate Hypersensitivity Reactions.
Ieven Toon, et al. Vaccines 2022 0 0. (2)
Human genetics of SARS-CoV-2 infection and critical COVID-19.
Mogensen Trine H, et al. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2022 0 0.
A Rare STXBP2 Mutation in Severe COVID-19 and Secondary Cytokine Storm Syndrome.
Reiff Daniel D, et al. Life (Basel, Switzerland) 2022 0 0. (2)
Host Defenses to Viruses: Lessons from Inborn Errors of Immunity.
Leonardi Lucia, et al. Medicina (Kaunas, Lithuania) 2022 0 0. (2)
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan Aidin et al. International journal of molecular sciences 2022 23(3)
The Immune Response to SARS-CoV-2 Vaccination: Insights Learned From Adult Patients With Common Variable Immune Deficiency.
Quinti Isabella, et al. Frontiers in immunology 2022 0 0. 815404
COVID-19 in CVID: a Case Series of 17 Patients.
Greenmyer Jacob R, et al. Journal of clinical immunology 2021 0 0. (1) 29-31
Psychological State of Parents of Children with Primary Immunodeficiencies During the COVID-19 Pandemic.
Akdag Berhan, et al. Pediatric allergy, immunology, and pulmonology 2022 0 0.
Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort.
Öztürk Kübra et al. Frontiers in pediatrics 2022 9805919
STROKE, COVID-19 INFECTION OR HERPES SIMPLEX ENCEPHALITIS: A DIAGNOSTIC DILEMMA.
R Traynor, et al. The Ulster medical journal 2022 0 0. (1) 56-57
A COVID-19 Vaccinated Patient with Phosphoinositide 3-Kinase Disease with Mild Illness Following SARS-CoV-2 Infection.
Sarkaria Sandeep, et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 0 0.
B cells promote CD8 T cell primary and memory responses to subunit vaccines.
Klarquist Jared, et al. Cell reports 2021 0 0. (8) 109591
Efficacy of Inactivated Vaccines in Patients Treated with Immunosuppressive Drug Therapy.
Bemben Nina M, et al. Pharmacotherapy 2022 0 0.
Prediction of More Severe MEFV Gene Mutations in Childhood.
Günes-Yilmaz Seviye et al. Turkish archives of pediatrics 2022 56(6) 610-617
Subcutaneous Gammanorm® by pump or rapid push infusion: Impact of the device on quality of life in adult patients with primary immunodeficiencies.
Warnatz Klaus, et al. Clinical immunology (Orlando, Fla.) 2022 0 0. 108938
Common Variable Immunodeficiency Disorders as a Model for Assessing COVID-19 Vaccine Responses in Immunocompromised Patients.
Ameratunga Rohan, et al. Frontiers in immunology 2022 0 0. 798389
22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.
Xue Jiangyang et al. Translational pediatrics 2022 10(12) 3273-3281
Colchicine Against SARS-CoV-2 Infection: What is the Evidence?
Drosos Alexandros A, et al. Rheumatology and therapy 2022 0 0.
SARS-CoV-2 as a trigger of eosinophilic pneumonia.
Araújo M, et al. Pulmonology 2021 0 0. (1) 62-64
COVID-19 in patients with primary immunodeficiency.
Maródi László, et al. Orvosi hetilap 2022 0 0. (5) 166-170
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.
Abolhassani Hassan, et al. Journal of clinical immunology 2022 0 0.
Anti-factor H antibody associated hemolytic uremic syndrome following SARS-CoV-2 infection.
Khandelwal Priyanka, et al. Pediatric nephrology (Berlin, Germany) 2022 0 0.
Elimination of Aicardi Goutières Syndrome Protein SAMHD1 Activates Cellular Innate Immunity and Suppresses SARS-CoV-2 Replication.
Oo Adrian, et al. The Journal of biological chemistry 2022 0 0. 101635
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar Pe'er et al. American journal of obstetrics and gynecology 2022
Congenital and acquired defects of immunity: An ever-evolving story.
Castagnoli Riccardo, et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022 0 0. 61-64
Ground glass opacities are not always COVID-19: a case of acute eosinophilic pneumonitis caused by daptomycin.
Valaiyapathi Rajalakshmi, et al. Lancet (London, England) 2022 0 0. (10321) 270
Salivary IgG to SARS-CoV-2 indicates seroconversion and correlates to serum neutralization in mRNA-vaccinated immunocompromised individuals.
Healy Katie, et al. Med (New York, N.Y.) 2022 0 0.
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Tangye Stuart G, et al. Journal of clinical immunology 2021 0 0. (3) 666-679
Therapeutic potential of colchicine in cardiovascular medicine: a pharmacological review.
Zhang Fan-Shun, et al. Acta pharmacologica Sinica 2022 0 0.
An appraisal of the frequency and severity of non-infectious manifestations in primary immunodeficiencies. A study of a national retrospective cohort of 1375 patients over 10 years.
Alligon Mickaël et al. The Journal of allergy and clinical immunology 2022
Comparison of diagnostic criteria for children with familial Mediterranean fever.
Akyol Onder Esra Nagehan et al. European journal of pediatrics 2022
Parental knowledge about familial Mediterranean fever: a cross-sectional study.
Yildirim Deniz Gezgin et al. The Turkish journal of pediatrics 2022 63(6) 1048-1055
Asymptomatic SARS-CoV-2 seropositivity: patients with childhood-onset rheumatic diseases versus healthy children.
Haslak Fatih, et al. Clinical rheumatology 2022 0 0.
Covid-19 in a patient with Familial Hemophagocytic Lymphohistiocytosis in children.
Üzel V Hülya, et al. The Turkish journal of pediatrics 2022 0 0. (6) 1103-1107
Eosinophil-mediated lung inflammation associated with elevated natural killer T cell response in COVID-19 patients.
Kim Dong-Min, et al. The Korean journal of internal medicine 2021 0 0. (1) 201-209
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink Kim et al. Frontiers in immunology 2022 12780134
T cell responses to SARS-CoV-2 in healthy controls and primary immunodeficiency patients.
Awuah Arnold, et al. Clinical and experimental immunology 2022 0 0.
COVID-19: a trigger for severe thrombotic microangiopathy in a patient with complement gene variant.
Pinte Larisa, et al. Romanian journal of internal medicine = Revue roumaine de medecine interne 2022 0 0.
Familial Mediterranean fever and COVID-19. An ancient disease in a pandemic of the new millennium: is it an epiphenomenon of infection?
Sensoy Timur S, et al. Rheumatology advances in practice 2022 0 0. (3) rkab097
Potential Molecular Mechanisms and Remdesivir Treatment for Acute Respiratory Syndrome Corona Virus 2 Infection/COVID 19 Through RNA Sequencing and Bioinformatics Analysis.
Prashanth G, et al. Bioinformatics and biology insights 2022 0 0. 11779322211067365
Global perceptions of the current and future impacts of COVID-19 on hereditary angioedema management.
Grivcheva-Panovska Vesna, et al. Allergy and asthma proceedings 2022 0 0. (1) e1-e10
Early experience of COVID-19 vaccine-related adverse events among adolescents and young adults with rheumatic diseases: A single-center study.
Haslak Fatih, et al. International journal of rheumatic diseases 2022 0 0.
TELO-SCOPE study: a randomised, double-blind, placebo-controlled, phase 2 trial of danazol for short telomere related pulmonary fibrosis.
Mackintosh John A, et al. BMJ open respiratory research 2021 0 0. (1)
Advances in clinical outcomes: what we have learned during the COVID-19 pandemic.
Al-Musa Amer, et al. The Journal of allergy and clinical immunology 2021 0 0.
COVID-19 triggers attacks in HAE patients without worsening disease outcome.
Olivares María Margarita, et al. The journal of allergy and clinical immunology. In practice 2021 0 0.
Immunogenicity and Tolerability of COVID-19 mRNA Vaccines in PID patients with functional B-cell defects.
Pham Michele N, et al. The Journal of allergy and clinical immunology 2021 0 0.
Pediatric Atypical Hemolytic Uremic Syndrome Advances.
Raina Rupesh, et al. Cells 2021 0 0. (12)
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Kerkhof Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Efficacy and safety of canakinumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: A single-centre observational study.
Tomokawa Takuya et al. Modern rheumatology 2021
Low IgG trough and lymphocyte subset counts are associated with hospitalization for COVID-19 in patients with primary antibody deficiency.
Kuster John K, et al. The journal of allergy and clinical immunology. In practice 2021 0 0.
The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index.
Nordin Julia et al. Frontiers in immunology 2021 12780140
Case series: coronavirus disease 2019 infection as a precipitant of atypical hemolytic uremic syndrome: two case reports.
Kurian Christine J, et al. Journal of medical case reports 2021 0 0. (1) 587
Death Due to COVID-19 in an Infant with Combined Immunodeficiencies.
Ahanchian Hamid, et al. Endocrine, metabolic & immune disorders drug targets 2020 0 0. (9) 1649-1652
Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults.
Girona-Alarcon Mònica, et al. iScience 2021 0 0. 103595
Relevant mediators involved in and therapies targeting the inflammatory response induced by activation of the NLRP3 inflammasome in ischemic stroke.
Xu Qingxue, et al. Journal of neuroinflammation 2021 0 0. (1) 123
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency.
Lang-Meli Julia, et al. Journal of clinical immunology 2021 0 0.
Clinical course of COVID-19 infection in paediatric familial Mediterranean fever patients.
Kaya Akca Ummusen, et al. Modern rheumatology 2021 0 0.
Hemphagocytic Lymphohistiocytosis Secondary to COVID-19: A Case Report.
Naqvi Warda A, et al. Cureus 2021 0 0. (11) e19292
Risk Perception, Risk Involvement/Exposure And Compliance To Preventive Measures To COVID-19 Among Nurses In A Tertiary Hospital In Asaba, Nigeria.
Ezike Okwudili C, et al. International journal of Africa nursing sciences 2021 0 0. 100385
[Immunity to SARS CoV-2 - strengths and weaknesses].
Niehues Tim, et al. Deutsche medizinische Wochenschrift (1946) 2021 0 0. (24-25) 1624-1635
Establishing Newborn Screening for SCID in the USA; Experience in California.
Puck Jennifer M et al. International journal of neonatal screening 2021 7(4)
Future Perspectives of Newborn Screening for Inborn Errors of Immunity.
Blom Maartje et al. International journal of neonatal screening 2021 7(4)
How do patients and physicians communicate about hereditary angioedema in the United States?
Jain Gagan et al. PloS one 2021 16(12) e0260805
COVID-19 and hereditary angioedema: Incidence, outcomes, and mechanistic implications.
Veronez Camila Lopes, et al. Allergy and asthma proceedings 2021 0 0. (6) 506-514
SARS-CoV-2 infection in children with rheumatic disease: Experience of a tertiary referral center.
Sözeri Betül, et al. Archives of rheumatology 2021 0 0. (3) 381-388
Successful Anti-SARS-CoV-2 Spike Protein Antibody Response to Vaccination in MAGT1 Deficiency.
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2021 0 0. 21526567211056239
Longitudinal study of DNA methylation and epigenetic clocks prior to and following test-confirmed COVID-19 and mRNA vaccination
APS Pang et al, MEDRXIV, December 5, 2021
A phase I, first-in-human, randomized dose-escalation study of anti-activated factor XII monoclonal antibody garadacimab.
McKenzie Andrew, et al. Clinical and translational science 2021 0 0.
Safety and efficacy of the mRNA BNT162b2 vaccine against SARS-CoV-2 in five groups of immunocompromised patients and healthy controls in a prospective open-label clinical trial.
Bergman Peter, et al. EBioMedicine 2021 0 0. 103705
Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome.
Akahane Daigo, et al. Journal of clinical immunology 2021 0 0.
C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.
Aiello Sistiana, et al. Blood advances 2021 0 0.
Challenges in Diagnosing COVID-19 Related Disease in Pediatric Patients With Rheumatic Disease.
Sener Seher, et al. Modern rheumatology 2021 0 0.
Evaluation of COVID-19 vaccine breakthrough infections among immunocompromised patients fully vaccinated with BNT162b2.
Di Fusco Manuela, et al. Journal of medical economics 2021 0 0. (1) 1248-1260
A Rapid and Simple Multiparameter Assay to Quantify Spike-Specific CD4 and CD8 T Cells after SARS-CoV-2 Vaccination: A Preliminary Report.
Azgomi Mojtaba Shekarkar, et al. Biomedicines 2021 0 0. (11)
B Cell Response Induced by SARS-CoV-2 Infection Is Boosted by the BNT162b2 Vaccine in Primary Antibody Deficiencies.
Pulvirenti Federica, et al. Cells 2021 0 0. (11)
COVID-19 in children with inborn errors of immunity: clinical scenarios.
Moazzen Nasrin, et al. American journal of clinical and experimental immunology 2021 0 0. (3) 77-85
COVID-19 as a potential trigger of complement-mediated atypical HUS.
El Sissy Carine, et al. Blood 2021 0 0. (18) 1777-1782
Statistical analysis of the community lockdown for COVID-19 pandemic.
Wu Shaocong, et al. Applied intelligence (Dordrecht, Netherlands) 2021 0 0. 1-18
Thrombotic Microangiopathy Triggered by COVID-19: Case Reports.
Korotchaeva Julia, et al. Nephron 2021 0 0. 1-6
Immunogenicity of Anti-SARS-CoV-2 Vaccines in Common Variable Immunodeficiency.
Arroyo-Sánchez Daniel, et al. Journal of clinical immunology 2021 0 0.
Assessment of COVID-19 Incidence and the Ability to Synthesise Anti-SARS-CoV-2 Antibodies of Paediatric Patients with Primary Immunodeficiency.
Pieniawska-Smiech Karolina, et al. Journal of clinical medicine 2021 0 0. (21)
Crosstalk between the renin-angiotensin, complement and kallikrein-kinin systems in inflammation.
Bekassy Zivile, et al. Nature reviews. Immunology 2021 0 0.
Persistent SARS-CoV-2 infection with repeated clinical recurrence in a patient with common variable immunodeficiency.
Cabañero-Navalon Marta Dafne, et al. Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases 2021 0 0.
Transient increased immunoglobulin levels in a hyper-IgM syndrome patient with COVID-19 infection.
Safarirad Molood, et al. Allergologia et immunopathologia 2021 0 0. (6) 63-66
Treatment of chronic or relapsing COVID-19 in immunodeficiency.
Brown Li-An K, et al. The Journal of allergy and clinical immunology 2021 0 0.
Genetic screening techniques and diseases for neonatal genetic diseases.
Han Lianshu et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 50(4) 429-435
The Assessment of Selected miRNA Profile in Familial Mediterranean Fever.
Kahraman Cigdem Yuce et al. BioMed research international 2021 20216495700
Social determinants of health and primary immunodeficiency.
Schejter Dr Yael Dinur et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2021
The analysis of genotype-phenotype correlation in familial Mediterranean fever.
Öztürk Kübra et al. Pediatrics international : official journal of the Japan Pediatric Society 2021
Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data.
van den Akker-van Marle M Elske et al. International journal of neonatal screening 2021 7(3)
Evaluation of newborn screening for severe combined immunodeficiency (SCID).
Nightingale Rebecca et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2021 71(711) 456-457
Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.
Mantravadi Vasudha et al. Frontiers in immunology 2021 12734096
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Blom Maartje et al. The Journal of allergy and clinical immunology 2021
[Treating inherited bone marrow failure syndromes and primary immunodeficiency diseases].
Ishimura Masataka et al. [Rinsho ketsueki] The Japanese journal of clinical hematology 2021 62(8) 1327-1333
Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia Sofia et al. Genes 2021 12(8)
Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
Blagojevic Christina et al. CMAJ open 2021 9(3) E802-E809
Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency.
Blom Maartje et al. Journal of clinical immunology 2021
Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
St Martin Emma et al. American journal of hematology 2021
Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.
Cogley Michael F et al. International journal of neonatal screening 2021 7(3)
Newborn Screening in the Diagnosis of Primary Immunodeficiency.
Kobrynski Lisa J et al. Clinical reviews in allergy & immunology 2021
Syndromic immunodeficiencies: a pediatrician's perspective on selected diseases.
Aleksandra Szczawinska-Poplonyk et al. Allergologia et immunopathologia 2021 49(4) 117-136
Hematopoietic Stem Cell Therapy for Wiskott-Aldrich Syndrome: Improved Outcome and Quality of Life.
Mallhi Kanwaldeep K et al. Journal of blood medicine 2021 12435-447
Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).
Smith Heather et al. Clinical immunology (Orlando, Fla.) 2021 229108778
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht Clair et al. Frontiers in immunology 2021 12665621
Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing.
Branch Anna et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
López-Nevado Marta et al. Frontiers in immunology 2021 12656356
Assessment and management of disease burden and quality of life in patients with hereditary angioedema: a consensus report.
Bork Konrad et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2021 17(1) 40
Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.
Ameratunga Rohan et al. Clinical reviews in allergy & immunology 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim Henrik et al. Genome medicine 2021 13(1) 40
Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83
The management of heterozygous familial hypercholesterolaemia with high lipoprotein (a) and statin intolerance. The guidelines a mirage?
Dal Pino Beatrice et al. European journal of preventive cardiology 2021
PI Prob: A risk prediction and clinical guidance system for evaluating patients with recurrent infections.
Rider Nicholas L et al. PloS one 2021 16(2) e0237285
Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever.
Tirosh Irit et al. Rheumatology (Oxford, England) 2021 Feb
Germline pathogenic variants in the Ataxia Telangiectasia Mutated (ATM) gene are associated with high and moderate risks for multiple cancers.
Hall Michael J et al. Cancer prevention research (Philadelphia, Pa.) 2021 Jan
Novel genetic variants of inborn errors of immunity.
Almarzooqi Farida et al. PloS one 2021 16(1) e0245888
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009-2018).
Thorsen Julia et al. Journal of clinical immunology 2021 Jan
Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices.
Knight Vijaya et al. International journal of neonatal screening 2020 Jun 6(3)
The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.
Sheller Ruthanne et al. Frontiers in immunology 2020 11577853
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Cordero Elisa et al. Enfermedades infecciosas y microbiologia clinica 2020 Nov 38(9) 438-443
Current Medical Management of Hereditary Angioedema: Follow-up Survey of US Physicians.
Riedl Marc A et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Oct
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies.
Segundo Gesmar Rodrigues Silva et al. Jornal de pediatria 2020 Oct
Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.
Braverman Alan C et al. JAMA cardiology 2020 Oct
Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood.
Aydin Fatma et al. Rheumatology international 2020 Oct
Review: Why screen for severe combined immunodeficiency disease?
Thomas C et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Sep
Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific.
Leung Daniel et al. Frontiers in immunology 2020 111605
Behçet disease (BD) and BD-like clinical phenotypes: NF-kB pathway in mucosal ulcerating diseases.
Perazzio Sandro F et al. Scandinavian journal of immunology 2020 Sep e12973
A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
Chinn Ivan K et al. Expert review of clinical immunology 2020 Aug
Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.
El Roz Ali et al. Medical sciences (Basel, Switzerland) 2020 Aug 8(3)
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink Kim et al. European journal of human genetics : EJHG 2020 Jul
Newborn Screening through TREC, TREC/KREC system for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive review.
Shinwari Khyber et al. Anti-inflammatory & anti-allergy agents in medicinal chemistry 2020 Jul
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand Janne et al. Frontiers in immunology 2020 111417
The importance of Mediterranean fever gene in familial Mediterranean fever.
Kehribar Demet Yalçin et al. European journal of rheumatology 2020 Jul
Familial Mediterranean fever: What associations to screen for?
Bouomrani Salem et al. Reumatologia 2020 58(3) 150-154
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran James E D et al. Nature 2020 583(7814) 90-95
The Use of Interleukine-1 Inhibitors in Familial Mediterranean Fever Patients: A Narrative Review.
Hentgen Véronique et al. Frontiers in immunology 2020 11971
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro Mathieu et al. The Journal of allergy and clinical immunology 2020 Jun
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
Okano Tsubasa et al. Journal of clinical immunology 2020 Jun
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun Jinqiao et al. Clinical & translational immunology 2020 May 9(5) e1138
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon Narissara et al. Frontiers in immunology 2020 11614
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp Hanne et al. Annals of the rheumatic diseases 2020 Apr
Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins Christopher J et al. Frontiers in immunology 2020 11464
Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population.
Frazer Lauren C et al. Pediatric research 2020 Apr
Marfan syndrome and related connective tissue disorders in the current era in Switzerland in 103 patients: medical and surgical management and impact of genetic testing.
Bombardieri Elisa et al. Swiss medical weekly 2020 Mar 150w20189
Genetics of severe combined immunodeficiency.
Kumrah Rajni et al. Genes & diseases 2020 Mar 7(1) 52-61
Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States.
Tachdjian Raffi et al. Allergy and asthma proceedings 2020 Mar
Patient-reported burden of hereditary angioedema: findings from a US patient survey.
Banerji Aleena et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Mar
The case for severe combined immunodeficiency (SCID) and T cell lymphopenia newborn screening: saving lives…one at a time.
Quinn Jessica et al. Immunologic research 2020 Mar
Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.
Simon Amos J et al. Clinical immunology (Orlando, Fla.) 2020 Mar 108376
Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
The evaluation of anxiety, depression and quality of life scores of children and adolescents with familial Mediterranean fever.
Sönmez Arzu Önal et al. Rheumatology international 2020 Jan
Lentiviral gene therapy for X-linked chronic granulomatous disease
DB Kohn et al, Nature Medicine, January 27, 2020
Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.
Mandola Amarilla B et al. Frontiers in immunology 2019 102940
Familial Mediterranean fever is associated with increased risk for ischemic heart disease and mortality - perspective derived from a large database.
Gendelman Omer et al. International journal of clinical practice 2020 Jan e13473
Methodological quality of clinical practice guidelines for genetic testing in children: A systematic assessment using the appraisal of guidelines for research and evaluation II instrument.
Jiao Xue-Feng et al. Medicine 2019 Dec 98(52) e18521
Modeling Cost-Effectiveness of On-Demand Treatment for Hereditary Angioedema Attacks.
Bernstein Jonathan A et al. Journal of managed care & specialty pharmacy 2019 Dec 1-9
The International/Canadian Hereditary Angioedema Guideline.
Betschel Stephen et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2019 1572
Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia.
Blom Maartje et al. Frontiers in immunology 2019 102438
Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective.
Schoenaker M H D et al. European journal of pediatrics 2019 Nov
First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain).
Argudo-Ramírez Ana et al. Frontiers in immunology 2019 102406
Twenty-Year Experience of a Single Referral Center on Pediatric Familial Mediterranean Fever: What Has Changed Over the Last Decade?
Kisla Ekinci Rabia Miray et al. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2019 Oct
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016
International consensus on the use of genetics in the management of hereditary angioedema.
Germenis Anastasios E et al. The journal of allergy and clinical immunology. In practice 2019 Oct
DiGeorge Syndrome Chromosome Region Deletion and Duplication: Prenatal Genotype-Phenotype Variability in Fetal Ultrasound and MRI.
Tramontana Allessandra et al. Prenatal diagnosis 2019 Oct
Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases.
Katsidzira Leolin et al. PloS one 2019 14(10) e0224023
Hereditary angioedema: a prospective study of a Brazilian single-center cohort.
Alonso Maria L O et al. International journal of dermatology 2019 Oct
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
van der Burg Mirjam et al. Frontiers in pediatrics 2019 7373
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
Wu Calvin C et al. The Journal of clinical endocrinology and metabolism 2017 102(9) 3111-3123
Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
Mo Wenyuan et al. Experimental hematology 2019 Sep
Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
Chinn Ivan K et al. The Journal of allergy and clinical immunology 2019 Sep
What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency.
Chong Hey J et al. Immunology and allergy clinics of North America 2019 Nov 39(4) 535-546
Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with the developed world.
Villavicencio Maria Fernanda et al. Current opinion in pediatrics 2019 Sep
Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening.
Patrawala Meera et al. Current opinion in allergy and clinical immunology 2019 Sep
Newborn Screening for Severe Combined Immunodeficiency.
Taki Mohammed et al. Pediatric clinics of North America 2019 Oct 66(5) 913-923
Practical Approach to Genetic Testing for Primary Immunodeficiencies.
Chinen Javier et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019 Aug
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.
Castagnoli Riccardo et al. Frontiers in pediatrics 2019 7295
Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study.
West Allison H et al. Cancer medicine 2019 Aug
The German National Registry of Primary Immunodeficiencies (2012-2017).
El-Helou Sabine M et al. Frontiers in immunology 2019 101272
Hereditary angioedema: Screening of first-degree blood relatives and earlier diagnosis.
Valle Solange O R et al. Allergy and asthma proceedings 2019 Jul 40(4) 279-281
Severe Combined Immunodeficiency: A Review for Neonatal Clinicians.
Michniacki Thomas F et al. NeoReviews 2019 Jun 20(6) e326-e335
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
Yska Hemmo A F et al. Journal of clinical immunology 2019 Jun
Jeffrey's Parents Did Something
by Debra Moffitt, CSL Behring, June 27, 2019
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts Peer et al. Genome medicine 2019 Jun (1) 38
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.
Bodian Dale L et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2019 1532
Hereditary angioedema, emergency management of attacks by a call center.
Javaud Nicolas et al. European journal of internal medicine 2019 May
Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi Cristina et al. Frontiers in immunology 2019 10316
Experimental gene therapy frees ‘bubble-boy’ babies from a life of isolation- Treatment restores immune-system function in young children with severe disorder.
H Ledford, Nature, April 17, 2019
Gene therapy restores immunity in infants with rare immunodeficiency disease
NIH News, April 17, 2019
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
Mamcarz Ewelina et al. The New England journal of medicine 2019 Apr (16) 1525-1534
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.
Thomas Caroline et al. Clinical immunology (Orlando, Fla.) 2019 Apr 20233-39
Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis.
Hays Laura H et al. Public health nursing (Boston, Mass.) 2019 Apr
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
The impact of hereditary angioedema on quality of life and family planning decisions.
Kuman Tunçel Özlem et al. International journal of psychiatry in medicine 2019 Mar 91217419837068
A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.
Vickers Ramiah R et al. Cureus 2019 Jan 11(1) e3873
Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Abolhassani Hassan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(1) 243-251
Clinical profile and quality of life of Puerto Ricans with hereditary angioedema.
Arce-Ayala Yanira M et al. Allergy and asthma proceedings 2019 Mar 40(2) 103-110
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri Jahnavi et al. Frontiers in immunology 2019 1023
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan Ilker et al. Rheumatology international 2019 Feb
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power Bradley et al. Orphanet journal of rare diseases 2019 14(1) 52
Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb
The Alluring Mirage Of Digital Health
J Osborne, Forbes, February 18, 2019
The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 2019 Feb
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz Waleed et al. Frontiers in immunology 2018 93146
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
Amatuni George S et al. Pediatrics 2019 Jan
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017
G Amatuni et al, Pediatrics, January 25, 2019
Now Is the Time to Use Molecular Gene Testing for the Diagnosis of Primary Immune Deficiencies.
Heimall Jennifer et al. The journal of allergy and clinical immunology. In practice 2019 Jan
Lessons Learned from Newborn Screening in Pilot Studies.
Taylor Jennifer L et al. North Carolina medical journal 80(1) 54-58
Comparison of the efficacy and safety of tocilizumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: study protocol for an investigator-initiated, multicenter, randomized, double-blind, placebo-controlled trial.
Koga Tomohiro et al. Trials 2018 Dec 19(1) 715
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck Jennifer M et al. Immunological reviews 2019 Jan 287(1) 241-252
The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.
Charest-Morin Xavier et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1483
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in TP63 gene in Arrhythmogenic Cardiomyopathy patients.
Poloni Giulia et al. Heart rhythm 2018 Nov
Familial Mediterranean fever: breaking all the (genetic) rules.
Stella Alessandro et al. Rheumatology (Oxford, England) 2018 Nov
Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.
Heimall Jennifer et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 129-140
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Dorsey Morna J et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 1-11
Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses.
Hoang Tiffany K et al. European journal of rheumatology 2018 Nov 1-7
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Bu Fengxiao et al. Journal of the American Society of Nephrology : JASN 2018 Oct
Practicalities of a reduced volume formulation of a C1-INH concentrate for the treatment of hereditary angioedema: real-life experience.
Dempster John et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1444
Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
Li Ran et al. BioMed research international 2018 20183724630
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
Leung Gordon K C et al. BMC medical genomics 2018 Oct 11(1) 93
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis.
Giavina-Bianchi Pedro et al. Clinics (Sao Paulo, Brazil) 2018 73e310
Clinical and genetic analysis of a rare syndrome associated with neoteny.
Walker Richard F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(5) 495-502
Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
Clinical and Demographic Evaluation According to MEFV Genes in Patients with Familial Mediterranean Fever.
Sönmezgöz Ergün et al. Biochemical genetics 2018 Oct
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Quinlan-Jones Elizabeth et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis.
Rubin Tamar S et al. Journal of clinical immunology 2018 Oct
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
Liao Hsuan-Chieh et al. The Journal of pediatrics 2018 Sep
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).
Audrain Marie A P et al. Journal of clinical immunology 2018 Sep
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Laver Thomas W et al. Clinical endocrinology 2018 Aug
Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.
Horovitz Yoseph et al. International journal of rheumatic diseases 2018 Mar 21(3) 755-760
The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Chinn Ivan K et al. Current opinion in pediatrics 2018 Sep
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
Kohn Donald B et al. The Journal of allergy and clinical immunology 2018 Sep
National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality.
Voskaridou Ersi et al. Annals of hematology 2018 Sep
The patient journey to diagnosis and treatment of autoinflammatory diseases.
Hausmann Jonathan S et al. Orphanet journal of rare diseases 2018 Sep 13(1) 156
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
Alsultan Abdulrahman et al. Genetic testing and molecular biomarkers 2018 Sep
Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018
Current and emerging therapies to prevent hereditary angioedema attacks.
Lumry William R et al. The American journal of managed care 2018 Aug 24(14 Suppl) S299-S307
Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
Puck Jennifer M et al. The Hastings Center report 2018 Jul 48 Suppl 2S7-S9
Severity of hereditary angioedema, prevalence, and diagnostic considerations.
Bernstein Jonathan A et al. The American journal of managed care 2018 Aug 24(14 Suppl) S292-S298
Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in South China.
Xia Yu et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018 Aug
The miRNA Mirage: How Close Are We to Finding a Non-Invasive Diagnostic Biomarker in Endometriosis? A Systematic Review.
Agrawal Swati et al. International journal of molecular sciences 2018 Feb 19(2)
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo Teresa et al. Research and practice in thrombosis and haemostasis 2017 Jul 1(1) 69-80
Non-response to colchicine in familial Mediterranean fever should be identified accurately.
Melikoglu Meltem A et al. International journal of rheumatic diseases 2017 Dec 20(12) 2118-2121
She had a lot of rashes, but donÂ’t all kids?
SG Boodman, Washington Post, July 2018
Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.
West Allison H et al. Hematology. American Society of Hematology. Education Program 2017 2017(1) 79-87
Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.
Valencic Erica et al. Current medicinal chemistry 2018 25(24) 2764-2782
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
Kojima Daiei et al. The Journal of allergy and clinical immunology 2016 138(1) 303-305.e3
Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
Aygören-Pürsün Emel et al. The New England journal of medicine 2018 Jul 379(4) 352-362
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patients.
Karaca Neslihan Edeer et al. International journal of immunopathology and pharmacology 322058738418779458
Canadian Physician Survey on the Medical Management of Hereditary Angioedema.
Fu Lisa et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2018 Jun
Clinicopathologic Characterization of Breast Carcinomas in Patients with Non-BRCA Germline Mutations: Results from a Single Institution's High Risk Population.
Meiss Alice E et al. Human pathology 2018 Jun
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran.
Nourizadeh Maryam et al. Scandinavian journal of immunology 2018 Jun e12699
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Boudewyns An et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39(6) 732-738
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.
Bisgin Atil et al. BioMed research international 2018 20189647253
Twenty-Five Years of Gene Therapy for ADA-SCID: From Bubble Babies to an Approved Drug.
Ferrua Francesca et al. Human gene therapy 2017 Nov 28(11) 972-981
SCID Newborn Screening Campaign
Immune Deficiency Foundation, 2018
Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency.
Loules Gedeon et al. Gene 2018 Aug 66776-82
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias].
Li Y et al. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 May 39(5) 414-419
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.
Yahalom Claudia et al. Ophthalmic genetics 2018 May 1-7
Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes.
Modell Vicki et al. Immunologic research 2018 May
Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital.
Fallah Shahrzad et al. Iranian journal of allergy, asthma, and immunology 2018 Apr 17(2) 201-207
The genetics of aniridia - simple things become complicated.
Wawrocka Anna et al. Journal of applied genetics 2018 May 59(2) 151-159
Updates in Newborn Screening.
Rajabi Farrah et al. Pediatric annals 2018 May 47(5) e187-e190
Ataxia-telangiectasia gene ( ATM ) mutation heterozygosity in breast cancer: a narrative review.
Jerzak K J et al. Current oncology (Toronto, Ont.) 2018 Apr 25(2) e176-e180
Achondroplasia and severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center
Adenosine deaminase deficiency
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Aicardi-Goutieres syndrome type 1
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Aicardi-Goutieres syndrome type 2
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Aicardi-Goutieres syndrome type 3
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Aicardi-Goutieres syndrome type 4
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Aicardi-Goutieres syndrome type 5
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Arthrogryposis and ectodermal dysplasia
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Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
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Ataxia telangiectasia
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Atypical hemolytic uremic syndrome
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Autoimmune lymphoproliferative syndrome
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Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
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Autoimmune pulmonary alveolar proteinosis
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Autosomal dominant hyper IgE syndrome
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Autosomal recessive hyper IgE syndrome
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Barth syndrome
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BENTA disease
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C1q deficiency
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Camera Marugo Cohen syndrome
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Cartilage-hair hypoplasia
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Chediak-Higashi syndrome
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Cherubism
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Chronic granulomatous disease
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Cohen syndrome
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Common variable immunodeficiency
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Congenital ectodermal dysplasia with hearing loss
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Congenital pulmonary alveolar proteinosis
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Cryopyrin-associated periodic syndrome
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Cyclic neutropenia
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Dianzani autoimmune lymphoproliferative syndrome
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DOCK2 Deficiency
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Dyskeratosis congenita
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Dyskeratosis congenita autosomal dominant
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Dyskeratosis congenita autosomal recessive
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Dyskeratosis congenita X-linked
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Ectodermal dysplasia
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Ectodermal dysplasia alopecia preaxial polydactyly
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Ectodermal dysplasia arthrogryposis diabetes mellitus
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Ectodermal dysplasia Bartalos type
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Ectodermal dysplasia Berlin type
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Ectodermal dysplasia blindness
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Ectodermal dysplasia intellectual disability CNS malformation
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Ectodermal dysplasia Margarita type
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Ectodermal dysplasia neurosensory deafness
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Ectodermal dysplasia skin fragility syndrome
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Ectodermal dysplasia trichoodontoonychial type
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Ectodermal dysplasia with natal teeth Turnpenny type
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Ectodermal dysplasia, hidrotic, Christianson-Fourie type
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Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
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Epidermodysplasia verruciformis
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Factor 2 deficiency
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Factor V deficiency
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Factor VII deficiency
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Factor X deficiency
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Factor XI deficiency
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Factor XII deficiency
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Factor XIII deficiency
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Familial cold autoinflammatory syndrome
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Familial Mediterranean fever
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Gamma-cystathionase deficiency
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GATA2 deficiency
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Gay Feinmesser Cohen syndrome
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Glycogen storage disease type 1B
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Griscelli syndrome type 1
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Griscelli syndrome type 2
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Griscelli syndrome type 3
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Hereditary angioedema
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Hermansky Pudlak syndrome 2
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Hermansky-Pudlak syndrome
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Herpes simplex encephalitis
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Hyper IgE syndrome
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Hyper-IgD syndrome
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Hypereosinophilic syndrome
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Hypohidrotic ectodermal dysplasia autosomal dominant
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Hypohidrotic ectodermal dysplasia autosomal recessive
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Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
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Hypohidrotic ectodermal dysplasia with immune deficiency
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Immunodeficiency with thymoma
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Immunodeficiency without anhidrotic ectodermal dysplasia
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Insulin-like growth factor I deficiency
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IRAK-4 deficiency
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Kabuki syndrome
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Leukocyte adhesion deficiency type 1
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Loeys-Dietz syndrome
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Loeys-Dietz syndrome type 1
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Loeys-Dietz syndrome type 2
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Loeys-Dietz syndrome type 3
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Loeys-Dietz syndrome type 4
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Majeed syndrome
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MED13L haploinsufficiency syndrome
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MHC class 1 deficiency
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MIRAGE syndrome
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Muckle-Wells syndrome
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MYD88 deficiency
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Neutrophil-specific granule deficiency
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Nijmegen breakage syndrome
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Omenn syndrome
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Osteopetrosis
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Osteopetrosis and infantile neuroaxonal dystrophy
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Osteopetrosis autosomal dominant type 1
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Osteopetrosis autosomal recessive 3
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Osteopetrosis autosomal recessive 6
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Osteopetrosis autosomal recessive 7
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Otulipenia
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Papillon Lefevre syndrome
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Poikiloderma with neutropenia
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Prolidase deficiency
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Properdin deficiency
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Properdin deficiency, X-linked
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Reticular dysgenesis
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Richieri-Costa Guion-Almeida Cohen syndrome
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Roifman syndrome
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Schimke immunoosseous dysplasia
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Severe combined immunodeficiency
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Severe combined immunodeficiency due to complete RAG1/2 deficiency
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Severe combined immunodeficiency with sensitivity to ionizing radiation
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Severe combined immunodeficiency, atypical
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Severe congenital neutropenia autosomal dominant
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Severe congenital neutropenia X-linked
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Shwachman-Diamond syndrome
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Specific antibody deficiency
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Syndactyly ectodermal dysplasia cleft lip palate hand foot
From NCATS Genetic and Rare Diseases Information Center
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
From NCATS Genetic and Rare Diseases Information Center
Transcobalamin 1 deficiency
From NCATS Genetic and Rare Diseases Information Center
WHIM syndrome
From NCATS Genetic and Rare Diseases Information Center
Wiedemann-Steiner syndrome
From NCATS Genetic and Rare Diseases Information Center
Wiskott Aldrich syndrome
From NCATS Genetic and Rare Diseases Information Center
X-linked hypohidrotic ectodermal dysplasia
From NCATS Genetic and Rare Diseases Information Center
X-linked lymphoproliferative syndrome
From NCATS Genetic and Rare Diseases Information Center
X-linked lymphoproliferative syndrome 1
From NCATS Genetic and Rare Diseases Information Center
X-linked lymphoproliferative syndrome 2
From NCATS Genetic and Rare Diseases Information Center
X-linked severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center
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About PI PHGKB
Primary Immune Deficiency Diseases (PI) PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to primary immune deficiency diseases....more
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 18, 2024
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