{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:07:43Z","timestamp":1791389263224,"version":"4.3.3"},"reference-count":38,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T00:00:00Z","timestamp":1620864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy Immunology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunologic, and molecular data of monogenic IEI patients with and without autoimmune manifestations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0\u201020.0) years were enrolled in this study. Overall, 331 patients (72.1%) were born to consanguineous parents. At the time of the study, 330 individuals (75.7%) were alive and 106 (24.3%) were deceased. Autoimmunity was reported in 92 (20.0%) patients with a median (IQR) age at autoimmune diagnosis of 4.0 (2.0\u20107.0) years. Sixteen patients (3.5%) showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease. Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4%). The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity. In patients with autoimmunity, the most common pathogenic variants were identified in\n                      <jats:italic>LRBA<\/jats:italic>\n                      (in 21 patients, 23.0%),\n                      <jats:italic>ATM<\/jats:italic>\n                      (in 13 patients, 14.0%), and\n                      <jats:italic>BTK<\/jats:italic>\n                      (in 9 patients, 10.0%) genes. In the evaluation of autoimmunity by different genes, 4 of 4\n                      <jats:italic>IL10RB<\/jats:italic>\n                      (100%), 3 of 3\n                      <jats:italic>AIRE<\/jats:italic>\n                      (100%), and 21 of 30\n                      <jats:italic>LRBA<\/jats:italic>\n                      (70.0%) mutated genes had the highest prevalence of autoimmunity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Autoimmune phenomena are common features among patients with monogenic IEI and are associated with a more complicated course of the disease. Therefore, when encountering autoimmune disorders, especially in the setting of dysgammaglobulinemia, it would be appropriate to conduct next\u2010generation sequencing to discover responsible genes for the immune dysregulation at an early stage of the disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pai.13510","type":"journal-article","created":{"date-parts":[[2021,3,27]],"date-time":"2021-03-27T21:04:18Z","timestamp":1616879058000},"page":"1335-1348","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Autoimmune manifestations among 461 patients with monogenic inborn errors of immunity"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5658-2511","authenticated-orcid":false,"given":"Gholamreza","family":"Azizi","sequence":"first","affiliation":[{"name":"Non\u2010Communicable Diseases Research Center Alborz University of Medical Sciences Karaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzieh","family":"Tavakol","sequence":"additional","affiliation":[{"name":"Non\u2010Communicable Diseases Research Center Alborz University of Medical Sciences Karaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Yazdani","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Pediatrics Center of Excellence Children's Medical Center Tehran University of Medical Science Tehran Iran"},{"name":"Iranian Primary Immunodeficiencies Network (IPIN) Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samaneh","family":"Delavari","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Pediatrics Center of Excellence Children's Medical Center Tehran University of Medical Science Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tannaz","family":"Moeini Shad","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Pediatrics Center of Excellence Children's Medical Center Tehran University of Medical Science Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Erfan","family":"Rasouli","sequence":"additional","affiliation":[{"name":"Non\u2010Communicable Diseases Research Center Alborz University of Medical Sciences Karaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0732-9170","authenticated-orcid":false,"given":"Mahnaz","family":"Jamee","sequence":"additional","affiliation":[{"name":"Non\u2010Communicable Diseases Research Center Alborz University of Medical Sciences Karaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salar","family":"Pashangzadeh","sequence":"additional","affiliation":[{"name":"Research Center for Immunodeficiencies Pediatrics Center of Excellence Children's Medical Center Tehran University of Medical Science Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arash","family":"Kalantari","sequence":"additional","affiliation":[{"name":"Department of Immunology and Allergy Imam Khomeini Hospital Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mansoureh","family":"Shariat","sequence":"additional","affiliation":[{"name":"Department of Allergy and Clinical Immunology Children's Medical Center Tehran University of Medical Sciences Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alireza","family":"Shafiei","sequence":"additional","affiliation":[{"name":"Department of Immunology Bahrami Hospital Tehran 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Immunodeficiency Research Center Isfahan University of Medical Sciences Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afshin","family":"Shirkani","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Department School of Medicine Bushehr University of Medical Sciences Bushehr Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soheila","family":"Alyasin","sequence":"additional","affiliation":[{"name":"Allergy Research Center Shiraz University of Medical Sciences Shiraz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farahzad","family":"Jabbari\u2010Azad","sequence":"additional","affiliation":[{"name":"Allergy Research Center Mashhad University of Medical Sciences Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Ghaffari","sequence":"additional","affiliation":[{"name":"Molecular and Cell Biology Research Center Pediatric Infectious Diseases 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