Innate immunity to viral infection involves induction of the type I IFN response; however, dysfunctional regulation of this pathway leads to inappropriate inflammation. Here, we evaluated a nonconsanguineous family of mixed European descent, with 4 members affected by systemic inflammatory and autoimmune conditions, including lupus, with variable clinical expression. We identified a germline dominant gain-of-function mutation in
Nadia Jeremiah, Bénédicte Neven, Matteo Gentili, Isabelle Callebaut, Sophia Maschalidi, Marie-Claude Stolzenberg, Nicolas Goudin, Marie-Louis Frémond, Patrick Nitschke, Thierry J. Molina, Stéphane Blanche, Capucine Picard, Gillian I. Rice, Yanick J. Crow, Nicolas Manel, Alain Fischer, Brigitte Bader-Meunier, Frédéric Rieux-Laucat
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