Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; OMIM, 240300), also termed autoimmune polyendocrine syndrome type 1, is a rare monogenic autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene (1). The gene discussed is AIRE; the disease is autoimmune polyendocrine syndrome type 1.