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.
Synopsis
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
Etiology
APECED is caused by alteration in a single gene, named the autoimmune regulator (AIRE) gene (MIM.607358).
See also
autoimmune polyendocrine syndromes (AIPES)
References
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
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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