{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:28:45Z","timestamp":1778664525041,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,7,10]],"date-time":"2019-07-10T00:00:00Z","timestamp":1562716800000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["PE\u20102016\u201002363915"],"award-info":[{"award-number":["PE\u20102016\u201002363915"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR\u20102018\u201012367794"],"award-info":[{"award-number":["GR\u20102018\u201012367794"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Digest Diseases"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Interleukin 12 receptor beta 1 (IL\u201012R\u03b21) deficiency is a primary immunodeficiency that exposes affected individuals to an augmented risk of intracellular pathogen\u2010mediated infections. The paradoxical presence of autoimmune manifestations in immune\u2010deficient patients has been recognized, but the basis of this phenomenon is unclear, with the role of frequent infections being a possible trigger to break tolerance. Our study aimed to analyze extensively a profile of autoantibodies in a clinically well\u2010defined case series of patients with IL\u201012R\u03b21 deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eight patients with IL\u201012R\u03b21 deficiency referred to Children's Medical Center in Tunis, Tunisia, during 1995\u20102012 were enrolled in the study. Sixteen age\u2010 and gender\u2010matched blood donors served as controls. Serum, liver\u2010related autoantibodies immunoglobulin (Ig)G, IgM, IgA were tested by ELISA and by standard indirect immunofluorescence on Hep\u20102 cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We found a significant prevalence of liver autoantibodies in the study group. Regarding primary biliary cholangitis (PBC), two of eight patients were positive for MIT3 autoantibodies, both confirmed by immunofluorescence, and one patient was positive for PBC\u2010specific antinuclear antibodies, sp100. Moreover, two patients had significantly increased gamma\u2010glutamyltransferase levels and one had IgM levels twice the upper limit of normal. Intriguingly two patients were positive for anti\u2010actin antibodies; a typical feature of autoimmune hepatitis type 1, along with a significant increase in IgG levels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first report of a serological analysis in patients with an IL\u201012R\u03b21 deficiency. Despite the difficulty in interpreting the role of the IL\u201012, the evidence of liver\u2010specific autoantibodies confirms the importance its signal in liver autoimmunity.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1751-2980.12790","type":"journal-article","created":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T08:35:43Z","timestamp":1558427743000},"page":"363-370","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Autoantibodies in patients with interleukin 12 receptor beta 1 deficiency"],"prefix":"10.1111","volume":"20","author":[{"given":"Vincenzo","family":"Ronca","sequence":"first","affiliation":[{"name":"Division of Gastroenterology and Center for Autoimmune Liver Diseases, San Gerardo Hospital, Department of Medicine and Surgery University of Milano\u2010Bicocca  Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qu 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