{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:03:10Z","timestamp":1785805390765,"version":"3.56.0"},"reference-count":58,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (<\/jats:p>","DOI":"10.1515\/jpem-2016-0276","type":"journal-article","created":{"date-parts":[[2017,2,21]],"date-time":"2017-02-21T14:25:24Z","timestamp":1487687124000},"source":"Crossref","is-referenced-by-count":4,"title":["Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome"],"prefix":"10.1515","volume":"30","author":[{"given":"Fatih","family":"Celmeli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Kocabas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ishak A","family":"Isik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mesut","family":"Parlak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Kisand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doga","family":"Turkkahraman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref471","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1053\/gast.2001.27103","article-title":"Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"121","year":"2001","journal-title":"Gastroenterology"},{"key":"ref551","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/nrgastro.2012.123","article-title":"Hepatopulmonary syndrome: update on pathogenesis and clinical features","volume":"9","year":"2012","journal-title":"Nat Rev Gastroenterol Hepatol"},{"key":"ref561","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.paed.2015.02.002","article-title":"Hepatopulmonary syndrome in children-an update","volume":"25","year":"2015","journal-title":"Paediatr Child Health (Oxford)"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1056\/NEJMc0909510","article-title":"Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect","volume":"362","year":"2010","journal-title":"N Engl J Med"},{"key":"ref401","doi-asserted-by":"crossref","first-page":"4389","DOI":"10.1210\/jc.2008-0935","article-title":"Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I","volume":"93","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"ref541","doi-asserted-by":"crossref","first-page":"2378","DOI":"10.1056\/NEJMra0707185","article-title":"Hepatopulmonary syndrome \u2013 a liver-induced lung vascular disorder","volume":"358","year":"2008","journal-title":"N Engl J Med"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"4930","DOI":"10.1210\/jc.2005-0418","article-title":"Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients","volume":"90","year":"2005","journal-title":"J Clin Endocrinolmetab"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","article-title":"Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines","volume":"207","year":"2010","journal-title":"J Exp Med"},{"key":"ref501","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1378\/chest.72.3.305","article-title":"Exercise-aggravated hypoxemia and orthodeoxia in cirrhosis","volume":"72","year":"1977","journal-title":"Chest"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/cei.12024","article-title":"Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice","volume":"171","year":"2013","journal-title":"Clin Exp Immunol"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1074\/jbc.M707211200","article-title":"AIRE\u2019s CARD revealed, a new structure for central tolerance provokes transcriptional plasticity","volume":"283","year":"2008","journal-title":"J Biol Chem"},{"key":"ref571","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/0016-5085(95)90589-8","article-title":"Diagnostic utility of contrast echocardiography and lung perfusion scan in patients with hepatopulmonary syndrome","volume":"109","year":"1995","journal-title":"Gastroenterology"},{"key":"ref91","first-page":"1549","article-title":"Antibody profiling by Luciferase Immunoprecipitation Systems (LIPS)","volume":"32","year":"2009","journal-title":"J Vis Exp"},{"key":"ref531","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.3748\/wjg.v20.i10.2586","article-title":"Cirrhosis and hepatopulmonary syndrome","volume":"20","year":"2014","journal-title":"World J Gastroenterol"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/j.1365-2796.2009.02090.x","article-title":"Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I","volume":"265","year":"2009","journal-title":"J Intern Med"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1210\/jcem.86.10.7884","article-title":"A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis","volume":"86","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1111\/j.1399-3046.2007.00807.x","article-title":"Childhood cirrhosis, hepatopulmonary syndrome and liver transplantation","volume":"12","year":"2008","journal-title":"Pediatr Transplant"},{"key":"ref521","doi-asserted-by":"crossref","first-page":"e522","DOI":"10.1542\/peds.2007-1075","article-title":"Prevalence of hepatopulmonary syndrome in children","volume":"121","year":"2008","journal-title":"Pediatrics"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"4389","DOI":"10.1210\/jc.2008-0935","article-title":"Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I","volume":"93","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1399-0004.2006.00690.x","article-title":"Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence","volume":"70","year":"2006","journal-title":"Clin Genet"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"4747","DOI":"10.1210\/jcem.86.10.7884","article-title":"A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis","volume":"86","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1007\/s10875-013-9938-6","article-title":"Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood","volume":"33","year":"2013","journal-title":"J Clin Immunol"},{"key":"ref381","first-page":"1549","article-title":"Antibody profiling by Luciferase Immunoprecipitation Systems (LIPS)","volume":"32","year":"2009","journal-title":"J Vis Exp"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","article-title":"Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines","volume":"207","year":"2010","journal-title":"J Exp Med"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/hmg\/11.4.397","article-title":"Aire deficient mice develop multiple features of APECED phenotype and show altered immune response","volume":"11","year":"2002","journal-title":"Hum mol Gen"},{"key":"ref481","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/hmg\/11.4.397","article-title":"Aire deficient mice develop multiple features of APECED phenotype and show altered immune response","volume":"11","year":"2002","journal-title":"Hum mol Gen"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s10875-015-0176-y","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy","volume":"35","year":"2015","journal-title":"J Clin Immunol"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20091983","article-title":"Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I","volume":"207","year":"2010","journal-title":"J Exp Med"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1007\/s10875-015-0176-y","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy","volume":"35","year":"2015","journal-title":"J Clin Immunol"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.3748\/wjg.v20.i10.2586","article-title":"Cirrhosis and hepatopulmonary syndrome","volume":"20","year":"2014","journal-title":"World J Gastroenterol"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1007\/s10875-013-9938-6","article-title":"Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood","volume":"33","year":"2013","journal-title":"J Clin Immunol"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/0016-5085(95)90589-8","article-title":"Diagnostic utility of contrast echocardiography and lung perfusion scan in patients with hepatopulmonary syndrome","volume":"109","year":"1995","journal-title":"Gastroenterology"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"e522","DOI":"10.1542\/peds.2007-1075","article-title":"Prevalence of hepatopulmonary syndrome in children","volume":"121","year":"2008","journal-title":"Pediatrics"},{"key":"ref61","first-page":"353250","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation","volume":"2012","year":"2012","journal-title":"Int J endocrinol"},{"key":"ref511","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1111\/j.1399-3046.2007.00807.x","article-title":"Childhood cirrhosis, hepatopulmonary syndrome and liver transplantation","volume":"12","year":"2008","journal-title":"Pediatr Transplant"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/j.immuni.2015.04.021","article-title":"Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases","volume":"42","year":"2015","journal-title":"Immunity"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","article-title":"Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients","volume":"322","year":"1990","journal-title":"N Engl J Med"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1053\/gast.2001.27103","article-title":"Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"121","year":"2001","journal-title":"Gastroenterology"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"2378","DOI":"10.1056\/NEJMra0707185","article-title":"Hepatopulmonary syndrome \u2013 a liver-induced lung vascular disorder","volume":"358","year":"2008","journal-title":"N Engl J Med"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1515\/sjph-2015-0017","article-title":"Clinical, genetic and immunological characteristics of paediatric autoimmune polyglandular syndrome type 1 patients in Slovenia","volume":"54","year":"2015","journal-title":"Slov J Public Health"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1399-0004.2006.00690.x","article-title":"Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence","volume":"70","year":"2006","journal-title":"Clin Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1056\/NEJM199006283222601","article-title":"Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients","volume":"322","year":"1990","journal-title":"N Engl J Med"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1074\/jbc.M707211200","article-title":"AIRE\u2019s CARD revealed, a new structure for central tolerance provokes transcriptional plasticity","volume":"283","year":"2008","journal-title":"J Biol Chem"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20091983","article-title":"Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I","volume":"207","year":"2010","journal-title":"J Exp Med"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.paed.2015.02.002","article-title":"Hepatopulmonary syndrome in children-an update","volume":"25","year":"2015","journal-title":"Paediatr Child Health (Oxford)"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","article-title":"Positional cloning of the APECED gene","volume":"17","year":"1997","journal-title":"Nat Genet"},{"key":"ref371","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1515\/sjph-2015-0017","article-title":"Clinical, genetic and immunological characteristics of paediatric autoimmune polyglandular syndrome type 1 patients in Slovenia","volume":"54","year":"2015","journal-title":"Slov J Public Health"},{"key":"ref351","first-page":"353250","article-title":"Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation","volume":"2012","year":"2012","journal-title":"Int J endocrinol"},{"key":"ref361","first-page":"903","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective","volume":"36","year":"2013","journal-title":"J Endocrinol Invest"},{"key":"ref71","first-page":"903","article-title":"Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective","volume":"36","year":"2013","journal-title":"J Endocrinol Invest"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1378\/chest.72.3.305","article-title":"Exercise-aggravated hypoxemia and orthodeoxia in cirrhosis","volume":"72","year":"1977","journal-title":"Chest"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/cei.12024","article-title":"Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice","volume":"171","year":"2013","journal-title":"Clin Exp Immunol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"4930","DOI":"10.1210\/jc.2005-0418","article-title":"Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients","volume":"90","year":"2005","journal-title":"J Clin Endocrinolmetab"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","article-title":"Positional cloning of the APECED gene","volume":"17","year":"1997","journal-title":"Nat Genet"},{"key":"ref491","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1056\/NEJMc0909510","article-title":"Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect","volume":"362","year":"2010","journal-title":"N Engl J Med"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/j.1365-2796.2009.02090.x","article-title":"Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I","volume":"265","year":"2009","journal-title":"J Intern Med"},{"key":"ref261","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/nrgastro.2012.123","article-title":"Hepatopulmonary syndrome: update on pathogenesis and clinical features","volume":"9","year":"2012","journal-title":"Nat Rev Gastroenterol Hepatol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/j.immuni.2015.04.021","article-title":"Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases","volume":"42","year":"2015","journal-title":"Immunity"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2017.30.issue-3\/jpem-2016-0276\/jpem-2016-0276.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0276\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:41:24Z","timestamp":1619055684000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0276\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":58,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2016-0276","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1,1]]}}}