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Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome
Author(s) -
Kisand Kai,
Peterson Pärt
Publication year - 2011
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2011.06308.x
Subject(s) - chronic mucocutaneous candidiasis , autoimmunity , medicine , autoimmune regulator , immunology , autoimmune disease , disease , pathogenesis , dermatology , immune system , pathology , antibody
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a monogenic autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene and, as a syndrome, is characterized by chronic mucocutaneous candidiasis and the presentation of various autoimmune diseases. During the last decade, research on APECED and AIRE has provided immunologists with several invaluable lessons regarding tolerance and autoimmunity. This review describes the clinical and immunological features of APECED and discusses emerging alternative models to explain the pathogenesis of the disease.