{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:47:01Z","timestamp":1787021221809,"version":"build-2736575974"},"reference-count":52,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005416","name":"Norwegian Research Council","doi-asserted-by":"publisher","award":["335093"],"award-info":[{"award-number":["335093"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005029","name":"Regional Health Authorities of Western Norway","doi-asserted-by":"publisher","award":["F-12616"],"award-info":[{"award-number":["F-12616"]}],"id":[{"id":"10.13039\/501100005029","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005029","name":"Regional Health Authorities of Western Norway","doi-asserted-by":"publisher","award":["F-13098"],"award-info":[{"award-number":["F-13098"]}],"id":[{"id":"10.13039\/501100005029","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005029","name":"Regional Health Authorities of Western Norway","doi-asserted-by":"publisher","award":["TMF2025TMT02"],"award-info":[{"award-number":["TMF2025TMT02"]}],"id":[{"id":"10.13039\/501100005029","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordic Foundation","doi-asserted-by":"publisher","award":["NNF210C0067918"],"award-info":[{"award-number":["NNF210C0067918"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordic Foundation","doi-asserted-by":"publisher","award":["NNF24OC0088909"],"award-info":[{"award-number":["NNF24OC0088909"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare yet severe multiorgan autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Classical APS-1 arises from biallelic recessive AIRE mutations, whereas dominant negative mutations cause a milder, nonclassical phenotype with variable clinical presentation. Due to its rarity, long-term, population-based data are limited, underscoring the need for extended follow-up to guide lifelong care and research.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To characterize the clinical profiles of APS-1 and explore associations between disease manifestations, autoantibody profiles, and AIRE mutations over an extended follow-up (1996-2025).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>All known Norwegian patients with APS-1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We analyzed longitudinal clinical and laboratory data of 71 APS-1 patients (49 classical, 22 nonclassical) from the Norwegian Registry of Organ-specific Autoimmune Diseases. Data included clinical progression, autoantibody and cytokine profiles, and AIRE genotypes. Additionally, we compared age at diagnosis of primary adrenal insufficiency (PAI) in patients with and without (n = 999) APS-1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In classical APS-1, the most frequent clinical manifestations were chronic mucocutaneous candidiasis, enamel hypoplasia, and PAI, while for nonclassical APS-1 vitiligo, hypothyroidism, and PAI were most common. A broad proinflammatory cytokine signature was observed in classical APS-1, along with increased levels of the soluble form of the interferon (IFN)-\u03b1\/\u03b2 receptor.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>APS-1 should be considered in patients diagnosed with PAI before age 20, and AIRE sequencing is recommended for diagnostic confirmation. The presence of IFN-\u03c9 autoantibodies, a proinflammatory cytokine profile, and increased soluble IFN receptor levels further support the role of dysregulated interferon responses in APS-1 pathogenesis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgag060","type":"journal-article","created":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T12:42:05Z","timestamp":1770813725000},"page":"1927-1939","source":"Crossref","is-referenced-by-count":1,"title":["Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9286-8437","authenticated-orcid":false,"given":"Isil","family":"Kucuka","sequence":"first","affiliation":[{"name":"Department of Clinical Science, University of Bergen , 5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8485-2248","authenticated-orcid":false,"given":"Anette S B","family":"Wolff","sequence":"additional","affiliation":[{"name":"Department of Medicine, Haukeland University Hospital , 5021 Bergen ,","place":["Norway"]},{"name":"Department of Biomedicine, University of Bergen , 5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2889-7342","authenticated-orcid":false,"given":"Lars","family":"Breivik","sequence":"additional","affiliation":[{"name":"Department of Clinical Science, University of Bergen , 5021 Bergen ,","place":["Norway"]},{"name":"Department of Medicine, Haukeland University Hospital , 5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thea","family":"Sj\u00f8gren","sequence":"additional","affiliation":[{"name":"Department of Medicine, Haukeland University Hospital , 5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8359-9818","authenticated-orcid":false,"given":"Eirik","family":"Bratland","sequence":"additional","affiliation":[{"name":"Department of Clinical Science, University of Bergen , 5021 Bergen ,","place":["Norway"]},{"name":"Department of Medical Genetics, Haukeland University Hospital , 5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Grytaas","sequence":"additional","affiliation":[{"name":"Department of Medicine, Haukeland University Hospital , 5021 Bergen ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Lima","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Akershus University Hospital , 1474 L\u00f8renskog ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders P","family":"J\u00f8rgensen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Oslo University Hospital , 0424 Oslo ,","place":["Norway"]},{"name":"Institute of Clinical Medicine, University of Oslo , 0424 Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Nermoen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Akershus University Hospital , 1474 L\u00f8renskog ,","place":["Norway"]},{"name":"Institute of Clinical Medicine, University of Oslo , 0424 Oslo ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c5sne","family":"Bakke","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Stavanger University Hospital , 4011 Stavanger ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hallvard","family":"Sings\u00e5s","sequence":"additional","affiliation":[{"name":"Department of 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Hospital , 5528 Haugesund ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thor","family":"Haug","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Molde Hospital , 6412 Molde ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2292-9489","authenticated-orcid":false,"given":"Guri","family":"Grimnes","sequence":"additional","affiliation":[{"name":"Division of Medicine, University Hospital of North Norway , 9019 Troms\u00f8 ,","place":["Norway"]},{"name":"Troms\u00f8 Endocrine Research Group, Institute of Clinical Medicine, The Arctic University of Norway , 9019 Troms\u00f8 ,","place":["Norway"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marthe Landsverk","family":"Rensvik","sequence":"additional","affiliation":[{"name":"Department of Medicine, \u00c5lesund Hospital , \u00c5lesund 6017 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