title: AIRE-mutations and autoimmune disease.
abstract: The gene causing the severe organ-specific autoimmune disease autoimmune polyendocrine syndrome type-1 (APS-1) was identified in 1997 and named autoimmune regulator (AIRE). AIRE plays a key role in shaping central immunological tolerance by facilitating negative selection of T cells in the thymus, building the thymic microarchitecture, and inducing a specific subset of regulatory T cells. So far, about 100 mutations have been identified. Recent advances suggest that certain mutations located in the SAND and PHD1 domains exert a dominant negative effect on wild type AIRE resulting in milder seemingly common forms of autoimmune diseases, including pernicious anemia, vitiligo and autoimmune thyroid disease. These findings indicate that AIRE also contribute to autoimmunity in more common organ-specific autoimmune disorders.
authors: Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
authors: Øyvind
authors: Ø
authors: Bruserud
authors: Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
authors: Bergithe E
authors: BE
authors: Oftedal
authors: Department of Clinical Science, University of Bergen, 5021 Bergen, Norway.
authors: Anette B
authors: AB
authors: Wolff
authors: Department of Clinical Science, University of Bergen, 5021 Bergen, Norway; Department of Medicine, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address: Eystein.husebye@uib.no.
authors: Eystein S
authors: ES
authors: Husebye
mesh_terms: D000752:Anemia, Pernicious / Q000235:genetics; D000818:Animals; D015551:Autoimmunity; D002454:Cell Differentiation; D060966:Clonal Selection, Antigen-Mediated; D006801:Humans; D007108:Immune Tolerance / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D016176:T-Lymphocyte Subsets / Q000276:immunology*; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*; D013950:Thymus Gland / Q000276:immunology*; D013967:Thyroiditis, Autoimmune / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014820:Vitiligo / Q000235:genetics; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein