Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity.
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| 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.
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| Authors | Mohammad Hossein Asgardoon, Gholamreza Azizi, Reza Yazdani, Mahsa Sohani, Salar Pashangzadeh, Arash Kalantari, Mansoureh Shariat, Alireza Shafiei, Fereshte Salami, Mahnaz Jamee, Seyed Erfan Rasouli, Javad Mohammadi, Gholamreza Hassanpour, Marziyeh Tavakol, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Nasrin Behniafard, Mohammad Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Soheila Alyasin, Farahzad Jabbari-Azad, Javad Ghaffari, Mehrnaz Mesdaghi, Hamid Ahanchian, Maryam Khoshkhui, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Rasoul Nasiri Kalmarzi, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Morteza Fallahpour, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziyar Rahimi Haji-Abadi, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Samaneh Delavari, Paniz Shirmast, Fateme Babaha, Ashraf Samavat, Setareh Mamishi, Hossein Ali Khazaei, Babak Negahdari, Nima Rezaei, Hassan Abolhassani, Asghar Aghamohammadi |
| Journal | International archives of allergy and immunology (Int Arch Allergy Immunol) Vol. 181 Issue 9 Pg. 706-714 ( 2020) ISSN: 1423-0097 [Electronic] Switzerland |
| PMID | 32615565 (Publication Type: Journal Article) |
| Copyright | © 2020 S. Karger AG, Basel. |
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