Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity

Asgardoon, M.H. and Azizi, G. and Yazdani, R. and Sohani, M. and Pashangzadeh, S. and Kalantari, A. and Shariat, M. and Shafiei, A. and Salami, F. and Jamee, M. and Rasouli, S.E. and Mohammadi, J. and Hassanpour, G. and Tavakol, M. and Chavoshzadeh, Z. and Mahdaviani, S.A. and Momen, T. and Behniafard, N. and Nabavi, M. and Bemanian, M.H. and Arshi, S. and Molatefi, R. and Sherkat, R. and Shirkani, A. and Alyasin, S. and Jabbari-Azad, F. and Ghaffari, J. and Mesdaghi, M. and Ahanchian, H. and Khoshkhui, M. and Eslamian, M.H. and Cheraghi, T. and Dabbaghzadeh, A. and Nasiri Kalmarzi, R. and Esmaeilzadeh, H. and Tafaroji, J. and Khalili, A. and Sadeghi-Shabestari, M. and Darougar, S. and Moghtaderi, M. and Ahmadiafshar, A. and Shakerian, B. and Heidarzadeh, M. and Ghalebaghi, B. and Fathi, S.M. and Darabi, B. and Fallahpour, M. and Mohsenzadeh, A. and Ebrahimi, S. and Sharafian, S. and Vosughimotlagh, A. and Tafakoridelbari, M. and Rahimi Haji-Abadi, M. and Ashournia, P. and Razaghian, A. and Rezaei, A. and Delavari, S. and Shirmast, P. and Babaha, F. and Samavat, A. and Mamishi, S. and Khazaei, H.A. and Negahdari, B. and Rezaei, N. and Abolhassani, H. and Aghamohammadi, A. (2020) Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity. International Archives of Allergy and Immunology, 181 (9). pp. 706-714.

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Background: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency disorder mainly characterized by recurrent bacterial infections besides other immunological defects including loss of or dysfunction of B cells and decreased immunoglobulin levels. In this study, our aim is to evaluate clinical, immunological, and molecular data of patients with a primary clinical diagnosis of CVID and autoimmune phenotype with a confirmed genetic diagnosis. Methods: Among 297 patients with CVID, who were registered in the Iranian Primary Immunodeficiency Registry at Children's Medical Center Hospital in Iran, 83 patients have been genetically examined and 27 patients with autoimmunity and confirmed genetic mutations were selected for analysis. Whole-exome sequencing and confirmatory Sanger sequencing methods were used for the study population. A questionnaire was retrospectively filled for all patients to evaluate demographic, laboratory, clinical, and genetic data. Results: In the 27 studied patients, 11 different genetic defects were identified, and the most common mutated gene was LRBA, reported in 17 (63.0) patients. Two patients (7.7) showed autoimmune complications as the first presentation of immunodeficiency. Eleven patients (40.7) developed one type of autoimmunity, and 16 patients (59.3) progressed to poly-autoimmunity. Most of the patients with mono-autoimmunity (n = 9, 90.0) primarily developed infectious complications, while in patients with poly-autoimmunity, the most common first presentation was enteropathy (n = 6, 37.6). In 13 patients (61.9), the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency. The most frequent autoimmune manifestations were hematologic (40.7), gastrointestinal (48.1), rheumatologic (25.9), and dermatologic (22.2) disorders. Patients with poly-autoimmunity had lower regulatory T cells than patients with mono-autoimmunity. Conclusion: In our cohort, the diagnosis of autoimmune disorders preceded the diagnosis of primary immunodeficiency in most patients. This association highlights the fact that patients referring with autoimmune manifestations should be evaluated for humoral immunity. © 2020 S. Karger AG, Basel. All rights reserved.

Item Type: Article
Additional Information: cited By 1
Uncontrolled Keywords: blnk protein; Bruton tyrosine kinase; CD3 antigen; CD4 antigen; dclre1c protein; DNA methyltransferase 3B; ighm protein; Janus kinase 3; lrba protein; mvk protein; protein; RAG1 protein; sh2da1 protein; unclassified drug; X linked inhibitor of apoptosis, adolescent; adult; allergic asthma; Article; autoimmune disease; autoimmune hemolytic anemia; autoimmunity; bronchiectasis; child; chronic diarrhea; clinical article; clinical assessment; clinical evaluation; common variable immunodeficiency; controlled study; demography; digital clubbing; disease association; disease exacerbation; endocrine disease; enteropathy; failure to thrive; female; gene mutation; genetic analysis; genetic identification; genetic screening; human; idiopathic thrombocytopenic purpura; immune deficiency; infectious complication; inflammatory bowel disease; juvenile rheumatoid arthritis; laboratory test; male; molecular biology; monogenic disorder; monogenic primary immunodeficiency disorder; otitis media; phenotypic variation; pneumonia; population; preschool child; priority journal; questionnaire; regulatory T lymphocyte; retrospective study; Sanger sequencing; school child; sinusitis; skin disease; skin infection; splenomegaly; whole exome sequencing; young adult
Subjects: QW Microbiology. Immunology
Depositing User: eprints admin
Date Deposited: 26 May 2021 08:24
Last Modified: 26 May 2021 08:24

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