Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), or Whitaker syndrome, is a form of autoimmune polyendocrine syndrome.

Autoimmune polyendocrine syndrome, type 1 is also known as candidiasis-hypoparathyroidism-Addison's disease-syndrome, Autoimmune Polyglandular Syndrome I, APECED, or APS-I. Its main features include:
 * A mild immune deficiency, leading to persistent mucosal and cutaneous infections with candida yeasts. There is also decreased function of the spleen (asplenism).
 * Autoimmune dysfunction of the parathyroid gland (leading to hypocalcaemia) and the adrenal gland (Addison's disease: hypoglycemia, hypotension and severe reactions in disease).
 * Other disease associations are:
 * hypothyroidism
 * hypogonadism and infertility
 * vitiligo (depigmentation of the skin)
 * alopecia (baldness)
 * malabsorption
 * pernicious anemia
 * chronic active (autoimmune) hepatitis

As opposed to type 2, this syndrome inherits in an autosomal recessive fashion and is due to a defect in AIRE ("autoimmune regulator"), a gene located on the 21st chromosome. Normal function of AIRE, a transcription factor, appears to be to confer immune tolerance for antigens from endocrine organs.