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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—Children and Their Primary Schools, vol. 1, ch. 3, Central Advisory Council for Education, London (1967)
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—New Yorker (April 23, 1990)