Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 83 Records) |
| Query Trace: Common Variable Immunodeficiency[original query] |
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| How to Identify Common Variable Immunodeficiency Patients Earlier: General Practice Patterns. Journal of clinical immunology 2019 8 39 (7): 641-652. Ilkjær Frederik V, Rasmussen Line D, Martin-Iguacel Raquel, Westh Lena, Katzenstein Terese L, Hansen Ann-Brit E, Nielsen Thyge L, Larsen Carsten S, Johansen Isik |
| Severe Facial Herpes Vegetans and Viremia in NFKB2-Deficient Common Variable Immunodeficiency. Frontiers in pediatrics 2019 4 7 61. Parsons Karyn, Cipriano Sarah D, Rosen Lindsey B, Browne Sarah K, Walter Jolan E, Stone Bryan L, Keeshin Susana, Chen Kar |
| CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. Frontiers in immunology 2019 2 9 3135. Kralickova Pavlina, Milota Tomas, Litzman Jiri, Malkusova Ivana, Jilek Dalibor, Petanova Jitka, Vydlakova Jana, Zimulova Alena, Fronkova Eva, Svaton Michael, Kanderova Veronika, Bloomfield Marketa, Parackova Zuzana, Klocperk Adam, Haviger Jiri, Kalina Tomas, Sediva An |
| NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential. Clinical immunology (Orlando, Fla.) 2019 11 210 108309. De Leo Pasqualina, Gazzurelli Luisa, Baronio Manuela, Montin Davide, Di Cesare Silvia, Giancotta Carmen, Licciardi Francesco, Cancrini Caterina, Aiuti Alessandro, Plebani Alessandro, Cicalese Maria Pia, Lougaris Vassilios, Fousteri Georg |
| Phenotypically defined subpopulations of circulating follicular helper T cells in common variable immunodeficiency. Immunity, inflammation and disease 2020 7 8 (3): 441-446. Yesillik Sait, Gupta Sudh |
| Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity. International archives of allergy and immunology 2020 7 181 (9): 706-714. Asgardoon Mohammad Hossein, Azizi Gholamreza, Yazdani Reza, Sohani Mahsa, Pashangzadeh Salar, Kalantari Arash, Shariat Mansoureh, Shafiei Alireza, Salami Fereshte, Jamee Mahnaz, Rasouli Seyed Erfan, Mohammadi Javad, Hassanpour Gholamreza, Tavakol Marziyeh, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Momen Tooba, Behniafard Nasrin, Nabavi Mohammad, Bemanian Mohammad Hassan, Arshi Saba, Molatefi Rasol, Sherkat Roya, Shirkani Afshin, Alyasin Soheila, Jabbari-Azad Farahzad, Ghaffari Javad, Mesdaghi Mehrnaz, Ahanchian Hamid, Khoshkhui Maryam, Eslamian Mohammad Hossein, Cheraghi Taher, Dabbaghzadeh Abbas, Nasiri Kalmarzi Rasoul, Esmaeilzadeh Hossein, Tafaroji Javad, Khalili Abbas, Sadeghi-Shabestari Mahnaz, Darougar Sepideh, Moghtaderi Mojgan, Ahmadiafshar Akefeh, Shakerian Behzad, Heidarzadeh Marzieh, Ghalebaghi Babak, Fathi Seyed Mohammad, Darabi Behzad, Fallahpour Morteza, Mohsenzadeh Azam, Ebrahimi Sarehsadat, Sharafian Samin, Vosughimotlagh Ahmad, Tafakoridelbari Mitra, Rahimi Haji-Abadi Maziyar, Ashournia Parisa, Razaghian Anahita, Rezaei Arezou, Delavari Samaneh, Shirmast Paniz, Babaha Fateme, Samavat Ashraf, Mamishi Setareh, Khazaei Hossein Ali, Negahdari Babak, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
| Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey. Immunological investigations 2020 May 1-9. Ozbek Begum, Tan Cagman, Yaz Ismail, Kosukcu Can, Esenboga Saliha, Cetinkaya P?nar Gur, Cagdas Deniz, Tezcan Ilh |
| HLA-A and -B Type and Haplotype Frequencies in IgG Subclass Deficiency Subgroups. Archivum immunologiae et therapiae experimentalis 2020 4 68 (3): 14. Barton James C, Barton Jackson C, Bertoli Luigi F, Acton Ronald |
| Histocompatibility Complex Status and Mendelian Randomization Analysis in Unsolved Antibody Deficiency. Frontiers in immunology 2020 11 14. Abolhassani Hassan, Lim Che Kang, Aghamohammadi Asghar, Hammarström Lenna |
| Somatic mutations and T-cell clonality in patients with immunodeficiency. Haematologica 2020 12 105 (12): 2757-2768. Savola Paula, Martelius Timi, Kankainen Matti, Huuhtanen Jani, Lundgren Sofie, Koski Yrjö, Eldfors Samuli, Kelkka Tiina, Keränen Mikko A I, Ellonen Pekka, Kovanen Panu E, Kytölä Soili, Saarela Janna, Lähdesmäki Harri, Seppänen Mikko R J, Mustjoki Sa |
| Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. Immunological investigations 2020 11 51 (2): 381-394. Salami Fereshte, Fekrvand Saba, Yazdani Reza, Shahkarami Sepideh, Azizi Gholamreza, Bagheri Yasser, Delavari Samaneh, Shariati Sahar, Mahdaviani Seyed Alireza, Nabavi Mohammamd, Shirkani Afshin, Abolhassani Hassan, Samadi Morteza, Aghamohammadi Asgh |
| Gut Microbiota-Dependent Trimethylamine N-Oxide Associates With Inflammation in Common Variable Immunodeficiency. Frontiers in immunology 2020 11 574500. Macpherson Magnhild E, Hov Johannes R, Ueland Thor, Dahl Tuva B, Kummen Martin, Otterdal Kari, Holm Kristian, Berge Rolf K, Mollnes Tom E, Trøseid Marius, Halvorsen Bente, Aukrust Pål, Fevang Børre, Jørgensen Silje |
| TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece. Medicina (Kaunas, Lithuania) 2021 8 57 (8): . Kakkas Ioannis, Tsinti Gerasimina, Kalala Fani, Farmaki Evangelia, Kourakli Alexandra, Kapousouzi Androniki, Dimou Maria, Kalaitzidou Vassiliki, Sevdali Eirini, Peristeri Athanasia-Marina, Tsiouma Georgia, Patiou Peristera, Papadimitriou Eleni, Vassilakopoulos Theodoros P, Panayiotidis Panayiotis, Kioumi Anna, Symeonidis Argiris, Speletas Matthai |
| A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. Cell death and differentiation 2021 Jul . Capitani Nagaja, Onnis Anna, Finetti Francesca, Cassioli Chiara, Plebani Alessandro, Brunetti Jlenia, Troilo Arianna, D'Elios Sofia, Baronio Manuela, Gazzurelli Luisa, Della Bella Chiara, Billadeau Daniel D, D'Elios Mario Milco, Lougaris Vassilios, Baldari Cosima |
| TACI deficiency - a complex system out of balance. Current opinion in immunology 2021 7 71 81-88. Salzer Ulrich, Grimbacher Bo |
| Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders. Clinical reviews in allergy & immunology 2021 4 61 (2): 226-235. Ameratunga Rohan, Allan Caroline, Lehnert Klaus, Woon See-Ta |
| The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID). Scientific reports 2021 Apr 11 (1): 8308. Bisgin Atil, Sonmezler Ozge, Boga Ibrahim, Yilmaz Musta |
| Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2021 3 32 (6): 1335-1348. Azizi Gholamreza, Tavakol Marzieh, Yazdani Reza, Delavari Samaneh, Moeini Shad Tannaz, Rasouli Seyed Erfan, Jamee Mahnaz, Pashangzadeh Salar, Kalantari Arash, Shariat Mansoureh, Shafiei Alireza, Mohammadi Javad, Hassanpour Gholamreza, Chavoshzadeh Zahra, Mahdaviani Seyed Alireza, Momen Tooba, Behniafard Nasrin, Nabavi Mohammad, Bemanian Mohammad Hassan, Arshi Saba, Molatefi Rasol, Sherkat Roya, Shirkani Afshin, Alyasin Soheila, Jabbari-Azad Farahzad, Ghaffari Javad, Mesdaghi Mehrnaz, Ahanchian Hamid, Khoshkhui Maryam, Eslamian Mohammad Hossein, Cheraghi Taher, Dabbaghzadeh Abbas, Nasiri Kalmarzi Rasoul, Esmaeilzadeh Hossein, Tafaroji Javad, Khalili Abbas, Sadeghi-Shabestari Mahnaz, Darougar Sepideh, Moghtaderi Mojgan, Ahmadiafshar Akefeh, Shakerian Behzad, Heidarzadeh Marzieh, Ghalebaghi Babak, Fathi Seyed Mohammad, Darabi Behzad, Fallahpour Morteza, Mohsenzadeh Azam, Ebrahimi Sarehsadat, Sharafian Samin, Vosughimotlagh Ahmad, Tafakoridelbari Mitra, Rahimi Haji-Abadi Maziyar, Ashournia Parisa, Razaghian Anahita, Rezaei Arezou, Salami Fereshte, Shirmast Paniz, Bazargan Nasrin, Mamishi Setareh, Khazaei Hossein Ali, Negahdari Babak, Shokri Sima, Nabavizadeh Seyed Hesamedin, Bazregari Saeed, Ghasemi Ramin, Bayat Shiva, Eshaghi Hamid, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
| Response to Severe Acute Respiratory Syndrome Coronavirus 2 Initial Series and Additional Dose Vaccine in Patients With Predominant Antibody Deficiency. The journal of allergy and clinical immunology. In practice 2022 4 10 (6): 1622-1634.e4. Barmettler Sara, DiGiacomo Daniel V, Yang Nancy J, Lam Tiffany, Naranbhai Vivek, Dighe Anand S, Burke Kristin E, Blumenthal Kimberly G, Ling Morris, Hesterberg Paul E, Saff Rebecca R, MacLean James, Ofoman Onosereme, Berrios Cristhian, St Denis Kerri J, Lam Evan C, Gregory David, Iafrate Anthony John, Poznansky Mark, Lee Hang, Balazs Alejandro, Pillai Shiv, Farmer Jocelyn |
| Ligand-independent oligomerization of TACI is controlled by the transmembrane domain and regulates proliferation of activated B cells. Cell reports 2022 3 38 (13): 110583. Smulski Cristian R, Zhang Luyao, Burek Malte, Teixidó Rubio Ariadna, Briem Jana-Susann, Sica Mauricio P, Sevdali Eirini, Vigolo Michele, Willen Laure, Odermatt Patricia, Istanbullu Duygu, Herr Stephanie, Cavallari Marco, Hess Henry, Rizzi Marta, Eibel Hermann, Schneider Pasc |
| Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae. Clinical immunology (Orlando, Fla.) 2022 11 246 109181. Tuovinen Elina A, Kuismin Outi, Soikkonen Leila, Martelius Timi, Kaustio Meri, Hämäläinen Sari, Viskari Hanna, Syrjänen Jaana, Wartiovaara-Kautto Ulla, Eklund Kari K, Saarela Janna, Varjosalo Markku, Kere Juha, Hautala Timo, Seppänen Mikko R |
| Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity. Asia Pacific allergy 2023 6 13 (2): 88-90. Xin Rong Lim, Yi Wye Lai, Choon Guan Chua, Yen Loo Lim, Siong See Joyce Lee, Chia Wei Lim, Yu-Hor Bernard Thong, Wei-Lynn Justina T |
| CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation. Military medicine 2023 12 . Joseph Baxter, Aubri Wate |
| Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency. The journal of allergy and clinical immunology. Global 2024 9 3 (4): 100311. Adrian Kahn, Gabriela Luque, Eduardo Cuestas, Ana Basquiera, Brenda Ricchi, Klaus Schmitz-Abe, Louis-Marie Charbonnier, Mehdi Benamar, Ruben Dario Motrich, Talal A Chatila, Virginia E Rive |
| Genetic polymorphisms of TLR1, TLR2, TLR3 and TLR4 in patients with recurrent or severe infections. International journal of immunogenetics 2024 5 . Johanna Teräsjärvi, Leena Kainulainen, Ville Peltola, Jussi Mertsola, Antti Hakanen, Qiushui |
| Heterozygous SERPINA1 Defects and Their Impact on Clinical Manifestations of Patients with Predominantly Antibody Deficiencies. International journal of molecular sciences 2024 5 25 (10): . Styliani Sarrou, Ioanna Voulgaridi, Athanasia Fousika, Katerina Dadouli, Olympia Margaritopoulou, Ioannis Kakkas, Christos Hadjichristodoulou, Fani Kalala, Matthaios Spelet |
| Adrenal hypoplasia congenita and hypogonadotropic hypogonadism due to a novel NR0B1 (DAX1) gene mutation associated with common variable immunodeficiency and Hashimoto's thyroiditis. Endokrynologia Polska 2024 10 . Jasmina ?iri?, Ivana Novakovi?, Aleksandra Peri?-Popadi?, Miloš Žarkovi?, Biljana Nedeljkovi? Beleslin, Branka Bona?i-Nikol |
| Exploring gastric cancer genetics: A turning point in common variable immunodeficiency. The journal of allergy and clinical immunology. Global 2024 1 3 (2): 100203. Silvia Sánchez-Ramón, Jesús Fuentes-Antrás, Nicholas L Rider, Pedro Pérez-Segura, Eduardo de la Fuente-Muñoz, Miguel Fernández-Arquero, Esmeralda Neves, Rebeca Pérez de Diego, Alberto Ocaña, Kissy Guevara-Hoy |
| Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency. Journal of clinical immunology 2024 1 44 (2): 54. Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Aina Aguiló-Cucurull, Janire Perurena-Prieto, Neus Castells, Blanca Urban, Romina Dieli-Crimi, Pere Soler-Palacín, Roger Colobr |
| Decreased expression of hsa-miR-142-3p and hsa-miR-155-5p in common variable immunodeficiency and involvement of their target genes and biological pathways. Allergologia et immunopathologia 2025 1 53 (1): 153-169. Tayebeh Ranjbarnejad, Alieh Gholaminejad, Hassan Abolhassani, Roya Sherkat, Mansoor Salehi, Mohammadreza Shari |
- Page last reviewed:Feb 1, 2024
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