Abstract:
:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We have isolated a novel gene, AIRE, encoding for a putative nuclear protein featuring two PHD-type zinc-finger motifs, suggesting its involvement in transcriptional regulation. Five mutations in AIRE are reported in individuals with this disorder. This is the first report of a single-gene defect causing a systemic human autoimmune disease, providing a tool for exploring the molecular basis of autoimmunity.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Finnish-German APECED Consortium.doi
10.1038/ng1297-399subject
Has Abstractpub_date
1997-12-01 00:00:00pages
399-403issue
4eissn
1061-4036issn
1546-1718journal_volume
17pub_type
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