Autoimmune Polyglandular Syndrome Type 1

**Semantic type:** Disease or Syndrome

**Definition:** Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum.

**Synonyms:** - APECED Syndrome - APS1 - Autoimmune Polyendocrine Syndrome Type 1 - Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome - Polyglandular Autoimmune Syndrome Type 1