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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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55 hot topic(s) found with the query "Primary immunodeficiency"

Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Yemsratch T Akalu et al. Nat Rev Genet 2023 10 (Posted: Oct 23, 2023 7PM)

From the abstract: "Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system. Namely, an increasing number of patients with IEIs present with severe dysregulations of the central nervous, digestive, renal or pulmonary systems. "

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 Brand (Posted: Jun 09, 2023 8AM)

Severe COVID-19 outcomes, including hospitalization, IMV, ICU admission, and death, are more frequent in PI patients than in non-PI patients seen in emergency departments. These results provide real-world evidence that PI is a risk factor for adverse COVID-19 outcomes.

Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021
E Drzymalla et al, JCM, May 17, 2023 (Posted: May 17, 2023 11AM)

We used Premier Healthcare Database, which contains information on inpatient discharges, to analyze COVID-19 outcomes among 853 adult PI and 1,197,430 non-PI patients who visited the emergency department. Hospitalization, intensive care unit (ICU) admission, invasive mechanical ventilation (IMV), and death had higher odds in PI patients than in non-PI patients (hospitalization aOR: 2.36, 95% CI: 1.87–2.98; ICU admission aOR: 1.53, 95% CI: 1.19–1.96; IMV aOR: 1.41, 95% CI: 1.15–1.72; death aOR: 1.37, 95% CI: 1.08–1.74), and PI patients spent on average 1.91 more days in the hospital than non-PI patients when adjusted for age, sex, race/ethnicity, and chronic conditions associated with severe COVID-19.

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 Brand (Posted: Mar 27, 2023 9AM)

We explore how new research on rare genetic diseases is contributing to our understanding of COVID-19 occurrence and outcomes and discuss potential clinical and public health implications. Understanding the mechanisms involved in these inherited disorders may shed light on biological mechanisms and natural history of COVID-19. Although only a small proportion of patients are ill due to rare, single gene disorders, studying them may improve understanding of underlying biological pathways, eventually leading to new therapies that are relevant across the disease spectrum.

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
T Yanes et al, EJHG, March 3, 2023 (Posted: Mar 03, 2023 9AM)

COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla Emily et al. Clinical immunology (Orlando, Fla.) 2022 8 109097 (Posted: Aug 22, 2022 6AM)

We performed a systematic review on COVID-19-associated morbidity and mortality in people with PI. Of the 1114 articles identified through the literature search, we included 68 articles in the review after removing 1046 articles because they were duplicates, did not involve COVID-19, did not involve PI, were not in English, were commentaries, or could not be accessed. The 68 articles included outcomes for 459 people with PI and COVID-19. Using data from these 459 people, we calculated a case fatality rate of 9%, hospitalization rate of 49%, and oxygen supplementation rate of 29%. Studies have indicated that a number of people with PI showed at least some immune response to COVID-19 vaccination, with responses varying by type of PI and other factors.

Gene therapy helps children with immunodeficiency
O'Leary, Nature Medicine, June 10, 2021 (Posted: Jun 11, 2021 7AM)

Adenosine deaminase (ADA) deficiency is a rare, inherited disorder that leads to potentially life-threatening severe combined immunodeficiency (ADA-SCID). Enzyme-replacement therapy provides only limited benefit and patients ultimately require a stem-cell transplant. A lentivirus-based treatment restores immune function with minimal side effects in children with adenosine deaminase deficiency.

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 (Posted: Mar 16, 2021 10AM)

Newborn screening for SCID with T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay for the identification of T- and B-lymphopenia has been implemented in a number of highly developed countries of the world. A number of studies proved the clinical and cost-effectiveness of screening for SCID by using TREC assay. However, both clinical benefits and economic costs for screening may vary depending on country and continent.

Next Generation Sequencing to Diagnose Primary Immunodeficiency
A Kantipuli et al, CDC blog post, January 22, 2021 Brand (Posted: Jan 23, 2021 7AM)

A pilot study used next generation sequencing (NGS) to identify the genetic cause of PI in patients with diagnosed or suspected PI. The PI panel used in the study included 207 genes. The study identified pathologic or likely pathologic variants in 52 of 158 (33%) participants, and 28 (18%) received a molecular diagnosis. This technology is often inaccessible to patients due to cost, lack of insurance coverage, and challenges in interpreting results.

She Had Her Own Mutation, Sequencing Led to a Treatment and Major Genetic Discovery – Then She Died of COVID
R Lewis, PLOS Blogs, August 6, 2020 (Posted: Aug 11, 2020 7AM)

Despite doing well, she was on dialysis as her kidneys were not functional, and she was on immunosuppression due to the transplant she had years ago. So she was at high risk, and unfortunately got infected with SARS-COV-2. It broke our hearts, but at least we were able to improve her quality of life substantially, if only for 2 years.

Overview of the current status of gene therapy for primary immune deficiencies
CY Ku, J Allergy Clin Immunol, August 2020 (Posted: Aug 06, 2020 7AM)

Although common platforms of cells, vectors, or editing reagents are used for these disorders, each individual genetic cause of an immune deficiency requires its own vector or editing tools and a package of preclinical data on efficacy and safety to initiate clinical trials.

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn Jessica et al. Immunologic research 2020 May (Posted: Jun 01, 2020 1PM)

158 patients and 29 relatives were tested in this pilot study. 21% of patients with a suspected monogenic disorder received a molecular diagnosis. Clinical diagnosis was altered in 45% of patients, disease management was altered in 40%, treatment was altered in 36%, and genetic counseling was altered in 62%. The pilot program the importance of NGS for PI.

Primary Immunodeficiency (PI)
CDC, April 2020 Brand (Posted: Apr 22, 2020 0PM)

There are more than 400 types of genetic PI that vary in severity, which affects how early they are detected. In some cases, a person with a mild form may not find out that they have PI until adulthood. In other cases, the disorder causes problems in infancy and is found soon after birth.

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 (Posted: Apr 22, 2020 9AM)

Bringing about change together
Primary Immunodeficiency Week, April 22-July 1, 2020 (Posted: Apr 16, 2020 8AM)

World PI Week offers an opportunity to inform and educate health policy-makers, schools and families, and the general public about primary immunodeficiencies (PI) to drive the earliest possible diagnosis and optimal treatment.

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 (Posted: Apr 15, 2020 10AM)

Recent advances in understanding inherited deficiencies in immunity to infections
GM Constantine et al, F1000, April 7, 2020 (Posted: Apr 08, 2020 8AM)

Inherited immunodeficiencies that manifest with susceptibility to bacterial, viral, and/or fungal infections have provided fundamental insights into the indispensable contribution of key immune pathways in host defense against various pathogens. In this mini-review, we summarize the findings from recent publications on inherited immunodeficiencies.

For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger
A Joseph, Stat News, March 23, 2020 (Posted: Mar 23, 2020 8AM)

An infection from the coronavirus can be a formidable threat to anyone. But it is especially pernicious for people whose health is vulnerable, even in the best of conditions. Examples include those with primary immunodeficiency disorders, cystic fibrosis, BRCA mutations, and congenital heart defects.

Genetic Screening of the Patients with Primary Immunodeficiency by Whole-
B Erman et al, Ped Allergy Immunol Pulm,February 2020 (Posted: Mar 03, 2020 8AM)

Primary immunodeficiencies are characterized by susceptibility to recurrent infections, allergy, malignancies and autoimmunity. The identification of disease-causing genetic defects is critically important for treatment options. In last decade, next-generation sequencing-based methods has enabled the rapid genetic screening.

Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987 (Posted: Feb 26, 2020 9AM)

Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359 (Posted: Feb 12, 2020 10AM)

Primary Immunodeficiencies Worldwide
Frontiers collection of articles, 2020 (Posted: Jan 23, 2020 11AM)

Over 400 genetic diseases are defined and characterized by recurrent or chronic infections, autoimmunity, allergy, inflammation, or cancer. The overall incidence of PID is around 1:10,000 and the majority presents early in childhood. Over the past decades, there has been an enormous increase in understanding of disease and patient awareness worldwide.

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 (Posted: Oct 02, 2019 8AM)

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 (Posted: Oct 02, 2019 8AM)

Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have profound impact on clinical management decisions. Clinical providers must therefore demonstrate proficiency in interpreting genetic data.

Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era: A Systematic Review.
Butters Coen et al. JAMA pediatrics 2019 Sep (Posted: Oct 01, 2019 8AM)

In this systematic review that included 6022 unique patients with primary invasive pneumococcal disease, children older than 2 years without a known predisposing condition presenting with their first episode of Streptococcus pneumoniae meningitis or pneumonia or recurrent invasive pneumococcal disease had rates of primary immunodeficiency as high as 26%.

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.
Castagnoli Riccardo et al. Frontiers in pediatrics 2019 7295 (Posted: Aug 27, 2019 6PM)

Gene therapy for primary immunodeficiency.
Booth Claire et al. Human molecular genetics 2019 Jul (Posted: Aug 05, 2019 8AM)

This review provides an overall outcome and progress in gene therapy clinical trials for several primary immunodeficiency disorders (SCID-X, ADA-SCID, WAS, X- CGD), and the recent developments in genome editing technology for developing potential therapy, and highlights key studies.

The Relationship between Cancer Predisposition and Primary Immunodeficiency
F Hauck et al, Front in Immunology, July 2019 (Posted: Jul 22, 2019 8AM)

The risk of malignancies is higher in patients with genetically determined inborn errors of immunity (IEI) than in the general population. The editorial present a series of 17 informative articles on this topic.

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 (Posted: Jul 02, 2019 9AM)

Jeffrey's Parents Did Something- Film recalls a son lost to primary immunodeficiency and the legacy built in his name.
D Moffit, CSL Behring, June 27, 2019 (Posted: Jun 28, 2019 8AM)

For a long time after losing their son, Vicki and Fred Modell couldn?t say his name. In a new documentary, Vicki Modell explains that it was too painful to speak of the blue-eyed boy, who lived only to age 15, and died in 1986 from complications of a primary immunodeficiency. The Modells pioneered public education about the symptoms of primary immunodeficiency, which when Jeffrey died was still an elusive, poorly understood genetic condition.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts Peer et al. Genome medicine 2019 Jun (1) 38 (Posted: Jun 20, 2019 11AM)

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 (Posted: Jan 23, 2019 2PM)

Genomics of Primary Immunodeficiency Disorders: It is scientifically important and it is personal
Mutation Watch, December 30, 2018 (Posted: Dec 30, 2018 4PM)

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 (Posted: Nov 28, 2018 8AM)

Use of Genetic Testing for Primary Immunodeficiency Patients.
Heimall Jennifer R et al. Journal of clinical immunology 2018 Apr (Posted: Apr 23, 2018 9AM)

Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies.
Zhang Qian et al. Current opinion in immunology 2017 Oct 122-133 (Posted: Oct 30, 2017 8AM)

Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
SD Grosse, CDC Blog Post, 2016 Brand (Posted: Aug 06, 2017 5AM)

Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
J King et al, International Journal of Neonatal Screening 2017, 3(3), 19 (Posted: Aug 06, 2017 5AM)

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen Asbjørg et al. The Journal of allergy and clinical immunology 2017 Jan 139(1) 232-245 (Posted: Jul 26, 2017 9AM)

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey Ashleigh R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun (Posted: Jun 21, 2017 8AM)

Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.
Modell Vicki et al. Immunologic research 2017 Feb (Posted: Mar 01, 2017 10AM)

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
Barbaro Michela et al. Journal of clinical immunology 2016 Nov (Posted: Nov 30, 2016 5PM)

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Gallo Vera et al. Frontiers in immunology 2016 7466 (Posted: Nov 30, 2016 11AM)

The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.
Lee Wen-I et al. Annals of medicine 2016 Feb 1-8 (Posted: Feb 10, 2016 9AM)

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-y immunity.
Bustamante Jacinta et al. Semin. Immunol. 2014 Dec (6) 454-70 (Posted: May 26, 2015 9AM)

Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.
Abolhassani Hassan et al. Expert Rev Clin Immunol 2015 Feb (2) 289-302 (Posted: May 23, 2015 9AM)

Novel primary immunodeficiency candidate genes predicted by the human gene connectome.
Itan Yuval et al. Front Immunol 2015 142 (Posted: May 23, 2015 9AM)

A Clinical and Laboratory Approach to the Evaluation of Innate Immunity in Pediatric CVID Patients.
Kutukculer Necil et al. Front Immunol 2015 145 (Posted: May 23, 2015 9AM)

Comparison of diagnostic criteria for common variable immunodeficiency disorder.
Ameratunga Rohan et al. Front Immunol 2014 415 (Posted: May 23, 2015 9AM)

Primary Immunodeficiencies with Elevated IgE.
Mogensen Trine H et al. Int. Rev. Immunol. 2015 May 13. (Posted: May 23, 2015 9AM)

Stem cell transplantation for primary immunodeficiency diseases: the North American experience.
Pai Sung-Yun et al. Curr Opin Allergy Clin Immunol 2014 Dec (6) 521-6 (Posted: Apr 01, 2015 1PM)

Diagnosing primary immunodeficiency: a practical approach for the non-immunologist.
Lehman Heather et al. Curr Med Res Opin 2015 Apr (4) 697-706 (Posted: Apr 01, 2015 1PM)

What is a “rare disease”? Polio eradication and primary immunodeficiency
Brand (Posted: Feb 25, 2015 0PM)

What's the connection between polio eradication and primary immunodeficiency?
Brand (Posted: Feb 25, 2015 0PM)

Newborn Screening: Severe Combined Immunodeficiency (SCID)
Brand (Posted: Feb 25, 2015 0PM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
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