Article
A gain-of-function mutation in TNFRSF13B is a candidate for predisposition to familial or sporadic immune thrombocytopenia.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2017
Peng H-L, Zhang Y, Sun N-N, Yin Y-F, Wang Y-W, Cheng Z, Yan W-Z, Liu S-F, Xu Y-X, Xiao X, Zhang G-S
Abstract excerpt
Essentials Positive family histories suggest the existence of hereditary immune thrombocytopenia (ITP). The predisposing gene for familial ITP was screened in two familial ITP patients. The G76S mutation on TNFRSF13B led to immune dysfunction and induced megakaryocyte apoptosis. The G76S mutation on TNFRSF13B is a gain-of-function mutation and a predisposing variant for ITP. SUMMARY: Background Most immune...
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