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- Jean-Laurent Casanova
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065;
説明
<jats:title>Significance</jats:title><jats:p>The key problem concerning pediatric infectious diseases, and more generally clinical diseases during primary infection, is their pathogenesis. A plausible and testable human genetic theory of primary infectious diseases has recently emerged, building on elegant studies in plants and animals. Three examples of monogenic resistance to common infections have been discovered. Moreover, a growing range of monogenic single-gene inborn errors of immunity, rarely Mendelian (with complete clinical penetrance) but more commonly non-Mendelian (with incomplete penetrance), have been found to underlie severe infectious diseases striking otherwise healthy children during primary infection. These findings provide a synthetic framework for inherited and infectious diseases and, more generally, for inborn and environmental conditions.</jats:p>
収録刊行物
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- Proceedings of the National Academy of Sciences
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Proceedings of the National Academy of Sciences 112 (51), E7128-, 2015-11-30
Proceedings of the National Academy of Sciences
