Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Author
Flanagan, Sarah
Haapaniemi, E.
Russell, Mark
Caswell, Richard C.
Lango Allen, H.
De Franco, Elisa
McDonald, Timothy J.
Rajala, H.
Ramelius, A.
Barton, J.
Heiskanen, K.
Heiskanen-Kosma, T.
Kajosaari, M.
Murphy, N. P.
Milenkovic, T.
Seppänen, M.
Lernmark, Å.
Mustjoki, S.
Otonkoski, T.
Kere, J.
Morgan, Noel G
Ellard, Sian
Hattersley, Andrew T.
Date
2014-08Journal
Nature geneticsType
Journal ArticleResearch Support, Non-U.S. Gov't
Publisher
NatureDOI
10.1038/ng.3040Rights
Archived with thanks to Nature GeneticsMetadata
Show full item recordAbstract
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.