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MIM.240300 21q22.3

Friday 21 November 2003

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED); autoimmune polyendocrine syndrome type I; autoimmune polyendocrinopathy syndrome type I; APS1; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder defined by the presence of two of three conditions, namely, Addison’s disease, hypoparathyroidism, and mucocutaneous candidiasis.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the gene AIRE (autoimmune regulator).

APECED affects mainly endocrine organs resulting in hypoparathyroidism, adrenocortical failure, diabetes mellitus, hypogonadism, and hypothyroidism. Nonendocrine organ manifestations are autoimmune hepatitis, vitiligo, pernicious anemia, exocrine pancreatic insufficiency, and alopecia.


- oral candidiasis (60%)
- intestinal malabsorption(9%)
- keratopathy (3%)
- candidiasis (100%)
- multiple endocrine deficiencies (50%) (loss of endocrine functions)

  • hypoparathyroidism (79%)
  • autoimmune adrenocortical insufficiency (72%) (12050123)
  • hypothyroidism
  • autoimmune hypogonadism with gonadal failure (60%)
  • type 1 diabetes

- autoimmune hepatitis
- vitiligo
- pernicious anemia
- exocrine pancreatic insufficiency
- alopecia
- chronic interstitial nephritis (CIN)

  • end-stage renal failure

- periodic malabsorption
- gastric parietal-cell atrophy
- hepatitis (15-20%) (11343230)
- alopecia
- vitiligo
- dental-enamel hypoplasia
- keratopathy


- APECED is caused by alteration in a single gene, named the autoimmune regulator (AIRE) gene (MIM.607358).

See also

- autoimmune polyendocrine syndromes (AIPES)


- Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL. J Exp Med. 2010 Feb 1. PMID: 20123958

- Ulinski T, Perrin L, Morris M, Houang M, Cabrol S, Grapin C, Chabbert-Buffet N, Bensman A, Deschenes G, Giurgea I. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome with renal failure: impact of posttransplant immunosuppression on disease activity. J Clin Endocrinol Metab. 2006 Jan;91(1):192-5. PMID: 16263818

- Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med. 2004 May 13;350(20):2068-79. PMID: 15141045

- Dotta F, Vendrame F. Neonatal syndromes of polyendocrinopathy. Endocrinol Metab Clin North Am. 2002 Jun;31(2):283-93. PMID: 12092451

- Meyer G, Badenhoop K. Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity. J Endocrinol Invest. 2002 Oct;25(9):804-11. PMID: 12398240

- Bjorses P, Aaltonen J, Horelli-Kuitunen N, Yaspo ML, Peltonen L. Gene defect behind APECED: a new clue to autoimmunity. Hum Mol Genet. 1998;7(10):1547-53. PMID: 9735375

- Ahonen P, Myllarniemi S, Sipila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990 Jun 28;322(26):1829-36. PMID: 2348835