Article
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
The Journal of clinical investigation - 1 Dec 2014
Jeremiah Nadia, Neven Bénédicte, Gentili Matteo, Callebaut Isabelle, Maschalidi Sophia, Stolzenberg Marie-Claude, Goudin Nicolas, Frémond Marie-Louis, Nitschke Patrick, Molina Thierry J, Blanche Stéphane, Picard Capucine, Rice Gillian I, Crow Yanick J, Manel Nicolas, Fischer Alain, Bader-Meunier Brigitte, Rieux-Laucat Frédéric
Abstract excerpt
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...
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