Article
Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.
The Journal of clinical endocrinology and metabolism - 17 Jun 2026
Kucuka Isil, Wolff Anette S B, Breivik Lars, Sjøgren Thea, Bratland Eirik, Grytaas Marianne, Lima Kari, Jørgensen Anders P, Nermoen Ingrid, Bakke Åsne, Singsås Hallvard, Svendsen Margrethe, Finnes Trine E, Nedrebø Bjørn Gunnar, Haug Thor, Grimnes Guri, Rensvik Marthe Landsverk, Gjerde Cecilie G, Marthinussen Mihaela C, Øksnes Marianne, Oftedal Bergithe E, Husebye Eystein S
Abstract excerpt
CONTEXT: 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,...
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