Article
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Nature genetics - 1 Aug 2014
Flanagan Sarah E, Haapaniemi Emma, Russell Mark A, Caswell Richard, Allen Hana Lango, De Franco Elisa, McDonald Timothy J, Rajala Hanna, Ramelius Anita, Barton John, Heiskanen Kaarina, Heiskanen-Kosma Tarja, Kajosaari Merja, Murphy Nuala P, Milenkovic Tatjana, Seppänen Mikko, Lernmark Åke, Mustjoki Satu, Otonkoski Timo, Kere Juha, Morgan Noel G, Ellard Sian, Hattersley Andrew T
Abstract excerpt
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...
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