Exome sequencing of patients with atypical clinical picture of autoimmune polyglandular syndrome

Autoimmune polyglandular syndrome (APS) is a cluster of endocrine disorders, arising from immune dysregulation often combined with damage of non-endocrine organs. There are 2 main types of APS. APS-1 is a rare autosomal recessive disease caused by mutations in the autoimmune regulator gene (AIRE), characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. APS-2 is far more common than APS-1. APS-2 is due to mutations in the HLA DQ/DR regions. Typical manifestations of APS-2 are type 1 diabetes, autoimmune thyroiditis, and Addison's disease. The study aimed to conduct and analyze exome sequencing of family trios in which children have an atypical clinical picture of autoimmune polyglandular syndrome.