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.

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

 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