Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity

Thu Oct 6 06:42:02 2022

(2020) Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity. International archives of allergy and immunology. pp. 706-714. ISSN 1423-0097 (Electronic) 1018-2438 (Linking)

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Official URL: https://www.ncbi.nlm.nih.gov/pubmed/32615565

Abstract

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.

Item Type: Article
Creators:
CreatorsEmail
Asgardoon, M. H.UNSPECIFIED
Azizi, G.UNSPECIFIED
Yazdani, R.UNSPECIFIED
Sohani, M.UNSPECIFIED
Pashangzadeh, S.UNSPECIFIED
Kalantari, A.UNSPECIFIED
Shariat, M.UNSPECIFIED
Shafiei, A.UNSPECIFIED
Salami, F.UNSPECIFIED
Jamee, M.UNSPECIFIED
Rasouli, S. E.UNSPECIFIED
Mohammadi, J.UNSPECIFIED
Hassanpour, G.UNSPECIFIED
Tavakol, M.UNSPECIFIED
Chavoshzadeh, Z.UNSPECIFIED
Mahdaviani, S. A.UNSPECIFIED
Momen, T.UNSPECIFIED
Behniafard, N.UNSPECIFIED
Nabavi, M.UNSPECIFIED
Bemanian, M. H.UNSPECIFIED
Arshi, S.UNSPECIFIED
Molatefi, R.UNSPECIFIED
Sherkat, R.UNSPECIFIED
Shirkani, A.UNSPECIFIED
Alyasin, S.UNSPECIFIED
Jabbari-Azad, F.UNSPECIFIED
Ghaffari, J.UNSPECIFIED
Mesdaghi, M.UNSPECIFIED
Ahanchian, H.UNSPECIFIED
Khoshkhui, M.UNSPECIFIED
Eslamian, M. H.UNSPECIFIED
Cheraghi, T.UNSPECIFIED
Dabbaghzadeh, A.UNSPECIFIED
Nasiri Kalmarzi, R.UNSPECIFIED
Esmaeilzadeh, H.UNSPECIFIED
Tafaroji, J.UNSPECIFIED
Khalili, A.UNSPECIFIED
Sadeghi-Shabestari, M.UNSPECIFIED
Darougar, S.UNSPECIFIED
Moghtaderi, M.UNSPECIFIED
Ahmadiafshar, A.UNSPECIFIED
Shakerian, B.UNSPECIFIED
Heidarzadeh, M.UNSPECIFIED
Ghalebaghi, B.UNSPECIFIED
Fathi, S. M.UNSPECIFIED
Darabi, B.UNSPECIFIED
Fallahpour, M.UNSPECIFIED
Mohsenzadeh, A.UNSPECIFIED
Ebrahimi, S.UNSPECIFIED
Sharafian, S.UNSPECIFIED
Vosughimotlagh, A.UNSPECIFIED
Tafakoridelbari, M.UNSPECIFIED
Rahimi Haji-Abadi, M.UNSPECIFIED
Ashournia, P.UNSPECIFIED
Razaghian, A.UNSPECIFIED
Rezaei, A.UNSPECIFIED
Delavari, S.UNSPECIFIED
Shirmast, P.UNSPECIFIED
Babaha, F.UNSPECIFIED
Samavat, A.UNSPECIFIED
Mamishi, S.UNSPECIFIED
Khazaei, H. A.UNSPECIFIED
Negahdari, B.UNSPECIFIED
Rezaei, N.UNSPECIFIED
Abolhassani, H.UNSPECIFIED
Aghamohammadi, A.UNSPECIFIED
Keywords: Autoimmunity Common variable immunodeficiency Primary immunodeficiency Sanger sequencing Whole-exome sequencing
Divisions:
Page Range: pp. 706-714
Journal or Publication Title: International archives of allergy and immunology
Journal Index: Pubmed
Volume: 181
Number: 9
Identification Number: https://doi.org/10.1159/000508817
ISSN: 1423-0097 (Electronic) 1018-2438 (Linking)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/3127

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