Autoimmune polyglandular syndrome type 1 with compound heterozygous AIRE gene pathogenic variants and stage 1 type 1 diabetes mellitus: case report and literature review of Chinese population.

Abstract excerpt

Background: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disorder caused by pathogenic variants in the AIRE gene, characterized by impaired central immune tolerance and multi-organ autoimmune damage. While relatively common in genetically isolated populations, genetically confirmed APS-1 cases remain exceptionally rare in Chinese individuals. To date, population-specific...

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