{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:02:51Z","timestamp":1785805371856,"version":"3.56.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (<jats:italic>AIRE<\/jats:italic>) gene mutations facilitates timely and precise diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p><jats:italic>AIRE<\/jats:italic> mutation detection was performed in a cohort of 11 patients. Two did not meet clinical APS-1 criteria and several started with atypical presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sequencing and TaqMan genotyping were used to identify <jats:italic>AIRE<\/jats:italic> mutations. Complete <jats:italic>AIRE<\/jats:italic> deletion was confirmed and framed by real-time PCR, long-range amplification and analysis of the microsatellite markers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven different mutations were detected, three were novel: c.892G&gt;A in exon 8, silent mutation c.462A&gt;T in exon 3 most likely affecting splicing, and a complete deletion of a single <jats:italic>AIRE<\/jats:italic> allele ((?_68)_(1567-14_?)del). Novel (chronic otitis) and rare (systemic juvenile rheumatoid arthritis, autoimmune bronchiolitis, epilepsy) clinical presentations were observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>AIRE<\/jats:italic> mutation detection was valuable in the diagnostics of APS-1 in patients with atypical presentation. Chronic otitis media possibly broadened the cluster of APS-1 manifestations.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-08-0328","type":"journal-article","created":{"date-parts":[[2008,8,6]],"date-time":"2008-08-06T03:30:21Z","timestamp":1217993421000},"page":"633-639","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":32,"title":["Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1"],"prefix":"10.1093","volume":"159","author":[{"given":"Katarina Trebu\u0161ak","family":"Podkraj\u0161ek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana","family":"Milenkovi\u0107","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roelof J","family":"Odink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedi L","family":"Claasen-van der Grinten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Bratani\u010d","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinka","family":"Hovnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/159\/5\/633.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/159\/5\/633.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:22:05Z","timestamp":1676391725000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/159\/5\/633\/6676090"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje-08-0328","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11]]}}}