{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:03:09Z","timestamp":1785805389928,"version":"3.56.0"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Introduction. Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal recessive disorder, caused by mutations in the AIRE gene. The major components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison\u2019s disease (AD). Clinical, genetic and immunological characteristics of Slovenian paediatric APS-1 patients were investigated. <\/jats:p>\n               <jats:p>Methods. Existing medical records of 15 APS-1 patients were rewieved, when necessary, additional clinical and laboratory investigations were issued. AIRE gene analysis was performed to identify causative mutations, and autoantibodies against type I interferons were measured by luminescence immunoprecipitation system. <\/jats:p>\n               <jats:p>Results. Patients had one to eight different manifestations of the disease. CMC was present in all, HP in 12\/15 (80 %) and AD in 8\/15 (53 %) patients. Growth retardation, due to hyposomatotropism, growth hormone resistance, autoimmune thyroiditis, corticosteroid treatment, malabsorption or secretory failure of exocrine pancreas, was observed in altogether 7 (46 %) patients. Six different AIRE gene mutations were detected and p.R257X mutation was present in 63.3 % of pathological alleles. Antibodies against type I interferons were detected in all patients. <\/jats:p>\n               <jats:p>Conclusion. APS-1 is a rare disorder with a broad spectrum of clinical manifestations, which, if unrecognized or inadequately treated may be fatal. AIRE gene mutational analysis and autoantibodies against type I interferons are important in early identification of the disease. The aetiology of growth retardation was shown to be extremely diverse, frequently caused by less characteristic manifestations. APS-1 may affect patients\u2019 quality of life in numerous ways, and may cause great psychosocial burden leading to depression and suicidal thoughts even in paediatric patients.<\/jats:p>","DOI":"10.1515\/sjph-2015-0017","type":"journal-article","created":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T15:36:59Z","timestamp":1430840219000},"page":"112-118","source":"Crossref","is-referenced-by-count":4,"title":["Clinical, Genetic and Immunological Characteristics of Paediatric Autoimmune Polyglandular Syndrome Type 1 Patients in Slovenia \/ Klini\u010dne, Genetske nn Imunolo\u0161ke Zna\u010dilnosti Otrok In Mladostnikov Z Avtoimunskim Poliglandularnim Sindromom Tipa 1 V Sloveniji"],"prefix":"10.1515","volume":"54","author":[{"given":"Nina","family":"Bratanic","sequence":"first","affiliation":[{"name":"University Children\u2019s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Kisand","sequence":"additional","affiliation":[{"name":"University of Tartu, Institute of Biomedicine and Translational Medicine, Ravila 19, 50411, Tartu, Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Avbelj Stefanija","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadej","family":"Battelino","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital, Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, Bohoriceva 20, 1000 Ljubljana, Slovenia"},{"name":"University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarina","family":"Trebusak Podkrajsek","sequence":"additional","affiliation":[{"name":"University of Ljubljana, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia"},{"name":"University Medical Centre Ljubljana, University Children\u2019s Hospital, Unit for Special Laboratory Diagnostics, Vrazov trg 1, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2015,3,13]]},"container-title":["Slovenian Journal of Public Health"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/content.sciendo.com\/view\/journals\/sjph\/54\/2\/article-p112.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.sciendo.com\/article\/10.1515\/sjph-2015-0017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T22:50:46Z","timestamp":1617835846000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.sciendo.com\/article\/10.1515\/sjph-2015-0017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,1]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,3,13]]},"published-print":{"date-parts":[[2015,3,1]]}},"alternative-id":["10.1515\/sjph-2015-0017"],"URL":"https:\/\/doi.org\/10.1515\/sjph-2015-0017","relation":{},"ISSN":["1854-2476"],"issn-type":[{"value":"1854-2476","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,1]]}}}