Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan, SE; Haapaniemi, E; Russell, Mark A.; et al.Caswell, Richard; Lango Allen, H; De Franco, E; McDonald, TJ; Rajala, H; Ramelius, A; Barton, J; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Kajosaari, M; Murphy, NP; Milenkovic, T; Seppänen, M; Lernmark, Å; Mustjoki, S; Otonkoski, T; Kere, J; Morgan, Noel G.; Ellard, Sian; Hattersley, Andrew T.
Date: 1 August 2014
Article
Journal
Nature Genetics
Publisher
Nature Publishing Group
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Abstract
Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the ...
Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.
Institute of Biomedical & Clinical Science
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