Autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome type 1
Other names	Autoimmune polyendocrinopathy-candidiasis–ectodermal dystrophy/dysplasia (APECED), Autoimmune polyglandular syndrome type 1, Whitaker syndrome, Candidiasis-hypoparathyroidism–Addison's disease syndrome
Autoimmune polyendocrine syndrome type 1 is autosomal recessive
Specialty	Endocrinology, medical genetics
Symptoms	chronic mucocutaneous candidiasis
Causes	mutation in AIRE gene
Diagnostic method	CT scan, biopsy
Treatment	hormone therapy, antifungals, immunosuppression

Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherited in autosomal recessive fashion due to a defect in the AIRE gene (autoimmune regulator), which is located on chromosome 21 and normally confers immune tolerance.^[1][2][3]