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More than Meets the Eye: Monogenic Autoimmunity Strikes Again
Mark S Anderson1, Jean-Laurent Casanova2
1Diabetes Center, University of California San Francisco, San Francisco, CA 94143, USA.
Abstract:
Autoimmunity is often familial, suggesting that inborn genetic variations might underlie its development. Curiously, autoimmunity has long been thought to be typically polygenic. Contrary to this prediction and consistent with growing discoveries of monogenic autoimmunity, Oftedal et al. discovered heterozygous dominant-negative AIRE mutations in patients with certain forms of autoimmunity.
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