Genetic Diseases Caused By Defects in Central Tolerance
Genetic defects in central tolerance can lead to autoimmunity.
- Autoimmune Polyendocrinopathy Syndrome Type I is caused by mutations in the human gene AIRE. This leads to a lack of expression of peripheral antigens in the thymus, and hence a lack of negative selection towards key peripheral proteins such as insulin. Multiple autoimmune symptoms result.
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—Fred G. Gosman (20th century)