Xuemei Chen, Qiling Xu, Xiaolin Li, Linlin Wang, Lu Yang, Zhi Chen, Ting Zeng, Xiuhong Xue, Tao Xu, Yanping Wang, Yanjun Jia, Qin Zhao, Junfeng Wu, Fangfang Liang, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao
PURPOSE: Signal transducer and activator of transcription 1 (STAT1) is a transcription factor that mediates cellular responses to interferons (IFNs) and other cytokines and growth factors in diverse cell types. STAT1 gain-of-function (GOF) mutations result in an unexpectedly wide range of clinical features. It remains unclear why STAT1 GOF mutations result in such a broad spectrum of phenotypes. METHODS: We analyzed the clinical, molecular, and phenotypic characteristics of nine Chinese patients with STAT1 GOF mutations...
November 4, 2019: Journal of Clinical Immunology