期刊
CURRENT OPINION IN IMMUNOLOGY
卷 43, 期 -, 页码 8-15出版社
CURRENT BIOLOGY LTD
DOI: 10.1016/j.coi.2016.07.003
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资金
- Western Norway Health Authorities
- Norwegian Research Council
- Bergen Medical Research Foundation
- Novo Nordisk Foundation
- University of Bergen
- Novo Nordisk Fonden [NNF14OC0011005] Funding Source: researchfish
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.
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