Article
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
The Journal of clinical endocrinology and metabolism - 1 Jun 2002
Halonen Maria, Eskelin Petra, Myhre Anne-Grethe, Perheentupa Jaakko, Husebye Eystein S, Kämpe Olle, Rorsman Fredrik, Peltonen Leena, Ulmanen Ismo, Partanen Jukka
Abstract excerpt
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, OMIM 240300) is a rare autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene on chromosome 21q22.3. This monogenic disease provides an interesting model for studies of other common and more complex autoimmune diseases. The most common components of APECED are chronic mucocutaneous candidiasis, hypoparathyroidism, and...
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