Article
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
Journal of medical genetics - 1 Jun 2013
Touitou Isabelle
Abstract excerpt
Over 15 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. The identification of another gene, TNFRSF1A, in 1999 led to the concept of autoinflammation which characterises rheumatological conditions triggered by a defective innate immunity. Substantive progress has been made since then with the identification of 18 autoinflammatory genes...
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