The Journal of clinical endocrinology and metabolism · 2026
Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.
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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
Аннотация
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, underscoring the need for extended follow-up to guide lifelong care and research.
OBJECTIVE: 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).
PATIENTS: All known Norwegian patients with APS-1.
METHODS: 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.
RESULTS: 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)-α/β receptor.
CONCLUSION: 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-ω autoantibodies, a proinflammatory cytokine profile, and increased soluble IFN receptor levels further support the role of dysregulated interferon responses in APS-1 pathogenesis.
OBJECTIVE: 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).
PATIENTS: All known Norwegian patients with APS-1.
METHODS: 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.
RESULTS: 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)-α/β receptor.
CONCLUSION: 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-ω autoantibodies, a proinflammatory cytokine profile, and increased soluble IFN receptor levels further support the role of dysregulated interferon responses in APS-1 pathogenesis.