Article
Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes.
Journal of clinical immunology - 1 Nov 2022
Chen Xuemei, Chen Junjie, Chen Ran, Mou Huilin, Sun Gan, Yang Lu, Jia Yanjun, Zhao Qin, Wen Wen, Zhou Lina, Ding Yuan, Tang Xuemei, Yang Jun, An Yunfei, Zhao Xiaodong
Abstract excerpt
PURPOSE: Mutations in signal transducer and activator of transcription 1 (STAT1) cause a broad spectrum of disease phenotypes. Heterozygous STAT1 loss-of-function (LOF) mutations cause Mendelian susceptibility to mycobacterial diseases (MSMD) infection, which is attributable to impaired IFN-γ signaling. The identification of novel mutations may extend the phenotypes associated with autosomal dominant (AD) STAT1...
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