{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T03:01:40Z","timestamp":1771988500132,"version":"3.50.1"},"reference-count":24,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"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":[[2014]]},"abstract":"<b><i>Background:<\/i><\/b> Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare recessive inherited disease caused by the mutation of the <i>AIRE<\/i> gene on chromosome 21. To date, 8 Sicilian patients have been described and the R203X <i>AIRE<\/i> mutation was found to be the most common in this region. <b><i>Aims:<\/i><\/b> (1) To describe 7 additional Sicilian APECED patients and to review all 15 Sicilian APECED patients who have been investigated by our group in the last years, and (2) to report a novel <i>AIRE<\/i> gene mutation. <b><i>Results:<\/i><\/b> Among the 3 cardinal features of APECED, hypoparathyroidism has been already detected in all 15 patients, whereas Addison's disease and chronic mucocutaneous candidiasis have so far been found in 10\/15 and 12\/15 cases, respectively. In 2 consanguineous cases, <i>AIRE<\/i> gene analysis revealed a novel mutation, named IVS13+2T, in homozygosis. R203X was the most common mutation in this region (30% of alleles and 46.6% of patients), followed by R257X (20% of alleles and 40% of patients). <b><i>Conclusions:<\/i><\/b> Sicilian APECED patients are confirmed to have some peculiar characteristics from a clinical and genetic point of view. No correlations between genotype and phenotype were identified.<\/jats:p>","DOI":"10.1159\/000363537","type":"journal-article","created":{"date-parts":[[2014,7,29]],"date-time":"2014-07-29T06:41:27Z","timestamp":1406616087000},"page":"127-132","source":"Crossref","is-referenced-by-count":28,"title":["Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily"],"prefix":"10.1159","volume":"82","author":[{"given":"Mariella","family":"Valenzise","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Fierabracci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Cappa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Porcelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Barcellona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo","family":"De Luca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susi","family":"Barollo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Garelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrado","family":"Betterle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,7,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-09-0044"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2005.09.022"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2611"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.2.841"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.11.824"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2461"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0668-3"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0736-8"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03318.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.03.032"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3275\/7965"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2009.02090.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.81.5.1871"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.82.5.3929"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1500313"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2010.03862.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706487"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/me.12.8.1112"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/353250"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3275\/8109"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2734"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1200493"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0809986106"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3006998"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/363537","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/363537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:49:34Z","timestamp":1745430574000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000363537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,8,1]]},"published-print":{"date-parts":[[2014,8,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000363537","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}