{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T09:26:36Z","timestamp":1789377996269,"version":"build-2803163510"},"reference-count":27,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis of APS-1 during early stages is often challenging. &lt;i&gt;Aim:&lt;\/i&gt; We aimed to provide clinical and mutational data for a large number of APS-1 patients in the Russian population. &lt;i&gt;Methods:&lt;\/i&gt; We analyzed clinical variations and component prevalence in APS-1 patients. DNA screening for autoimmune regulator (AIRE) gene mutations was performed in established APS-1 patients and in patients with the single components of chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, or alopecia. &lt;i&gt;Results:&lt;\/i&gt; We identified 46 patients from 42 families with APS-1. Eighteen different components were present in the patients, including very rare conditions \u2013 bone dysplasia and retinitis pigmentosa. We identified 10 different mutations, 3 of which were novel (M1T, E298K, c1053_1060del). The common Finnish mutation, R257X, was the most frequent in our population, present in 64\/92 (70%) of the alleles. &lt;i&gt;Conclusion:&lt;\/i&gt; We found that the R257X AIRE mutation is common in Russian APS-1 patients. The majority of children with hypoparathyroidism and chronic mucocutaneous candidiasis were carriers of the AIRE mutations.<\/jats:p>","DOI":"10.1159\/000313585","type":"journal-article","created":{"date-parts":[[2010,4,28]],"date-time":"2010-04-28T06:58:23Z","timestamp":1272437903000},"page":"449-457","source":"Crossref","is-referenced-by-count":55,"title":["Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations"],"prefix":"10.1159","volume":"73","author":[{"given":"Elizaveta M.","family":"Orlova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna M.","family":"Bukina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira S.","family":"Kuznetsova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Kareva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina U.","family":"Zakharova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina A.","family":"Peterkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan I.","family":"Dedov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,4,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1297-399"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1297-393"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-2611"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2006-1873"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.2001.01201.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2002-021495"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.83.4.1049"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.immuni.2005.07.005"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS0889-8529%2801%2900011-1"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F11.4.397"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390050846"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.1178"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-0418"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2003-030279"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.1176"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1086%2F302145"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159%2F000088307"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2003-030089"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1600-0420.2000.078005532.x"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jaapos.2006.06.018"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1530%2Feje.0.1460519"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.85.2.688"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.2001.01230.x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1399-0039.2002.600604.x"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pmed.0030289"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.clim.2008.07.002"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2008-0935"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/313585","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/313585","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:13:07Z","timestamp":1745435587000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000313585"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":27,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2010,5,1]]},"published-print":{"date-parts":[[2010,6,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000313585","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}