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APECED

MIM.240300 21q22.3

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

 
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

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.

Etiology

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

References

-  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#


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