AIRE-mutations and autoimmune disease.

  title={AIRE-mutations and autoimmune disease.},
  author={\Oyvind Bruserud and Bergithe Eikeland Oftedal and Anette S. B. Wolff and Eystein Sverre Husebye},
  journal={Current opinion in immunology},
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… CONTINUE READING


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