Article
A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.
Oncotarget - 21 Aug 2015
Wienke Judith, Janssen Willemijn, Scholman Rianne, Spits Hilde, van Gijn Marielle, Boes Marianne, van Montfrans Joris, Moes Nicolette, de Roock Sytze
Abstract excerpt
Mutations in STAT3 have recently been shown to cause autoimmune diseases through increased lymphoproliferation. We describe a novel Pro471Arg STAT3 mutation in a patient with multiple autoimmune diseases, causing hyperactivation of the Th17 pathway. We show that IL-17 production by primary T cells was enhanced and could not be further increased by IL-6, while IL-10 reduced Th17 cell numbers. Moreover, specific...
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