{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:13:58Z","timestamp":1787004838774,"version":"build-2736575974"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":5236,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,5]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      The mechanisms driving the immune\u2013mediated destruction of hepatic tissues in autoimmune hepatitis (AIH) are unknown. Recently the autoimmune regulator (\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      ), a gene associated with the development of the autoimmune polyglandular syndrome type 1 (APS\u20131), was cloned. About 15% to 20% of APS\u20131 patients develop hepatitis. However, the role of AIRE mutations in AIH, primary sclerosing cholangitis (PSC), and primary biliary cirrhosis (PBC) is not known. To address this issue patients with AIH (n = 94), PSC (n = 60), and PBC (n = 30) were analyzed for the presence of mutations in exons 6, 8, and 10 of\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      by single stranded conformation polymorphism and sequence analysis. Autoantibody patterns of patients with defects in\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      were analyzed by indirect immunofluorescence, enzyme\u2013linked immunosorbent assay and Western blot. Heterozygous mutations of\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein. None of the 3 patients with a defective\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      allele showed autoantibodies, which are known to associate with APS\u20131. These findings show a differential genetic association of autoimmune liver diseases and hepatitis in APS\u20131. The subgroup of patients with heterozygous mutations in\n                      <jats:italic toggle=\"yes\">AIRE<\/jats:italic>\n                      does not represent patients with an incomplete APS\u20131 syndrome. However, the\n                      <jats:italic toggle=\"yes\">Aire<\/jats:italic>\n                      gene defect showed that genes involved in the induction of immunologic tolerance provide candidates for etiologic factors in autoimmune liver diseases.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1053\/jhep.2001.24031","type":"journal-article","created":{"date-parts":[[2002,8,24]],"date-time":"2002-08-24T23:46:10Z","timestamp":1030232770000},"page":"1047-1052","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":57,"title":["Autoimmune Regulator Aire: Evidence for Genetic Differences Between Autoimmune Hepatitis and Hepatitis As Part of the Autoimmune Polyglandular Syndrome Type 1"],"prefix":"10.1097","volume":"33","author":[{"given":"Arndt","family":"Vogel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Liermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Harms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian P.","family":"Strassburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Manns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Obermayer-Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","container-title":["Hepatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1053%2Fjhep.2001.24031","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.lww.com\/01515467-200105000-00006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T06:30:14Z","timestamp":1733034614000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/01515467-200105000-00006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5]]},"references-count":0,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001]]}},"URL":"https:\/\/doi.org\/10.1053\/jhep.2001.24031","relation":{},"ISSN":["0270-9139"],"issn-type":[{"value":"0270-9139","type":"print"}],"subject":[],"published":{"date-parts":[[2001,5]]}}}