Autoimmune Polyendocrine Syndrome Type 1 (APS-1, MIM:240300), also called Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy (APECED), is a rare primary immunodeficiency disease caused by variants in the autoimmune regulator (AIRE) gene1. This evidence concerns the gene AIRE and autoimmune polyendocrine syndrome type 1.