Autoimmune polyendocrine syndrome type 1

Also known as: APECED; APS-1

Chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease.

Medical specialty: Immunology
Subspecialty: Immunology / Immune dysregulation
Sex & age distribution: Male: affected; Female: affected; Children: yes, onset in childhood
Gene(s) involved: AIRE

Etiology & mechanism

AIRE-mediated loss of central tolerance.

Gene(s) involved (1)

AIRE

Symptoms & signs (3)

adrenal insufficiencychronic mucocutaneous candidiasishypoparathyroidism

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.