Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
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ABSTRACT:
SUBMITTER: Flanagan SE
PROVIDER: S-EPMC4129488 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Publications
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Flanagan Sarah E SE Haapaniemi Emma E Russell Mark A MA Caswell Richard R Allen Hana Lango HL De Franco Elisa E McDonald Timothy J TJ Rajala Hanna H Ramelius Anita A Barton John J Heiskanen Kaarina K Heiskanen-Kosma Tarja T Kajosaari Merja M Murphy Nuala P NP Milenkovic Tatjana T Seppänen Mikko M Lernmark Åke Å Mustjoki Satu S Otonkoski Timo T Kere Juha J Morgan Noel G NG Ellard Sian S Hattersley Andrew T AT
Nature genetics 20140720 8
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. ...[more]
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