Loss of function mutations in AIRE (either recessive or dominantly inherited) cause autoimmune polyendocrine syndrome type 1 (APS1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, APECED) by reducing or removing this function of AIRE in the thymus [12]. This evidence concerns the gene AIRE and autoimmune polyendocrine syndrome type 1.