Article
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.
Journal of clinical immunology - 1 Aug 2022
Zhang Liang, Chen Zhi, Li Wenyan, Liu Qiao, Wang Yanping, Chen Xuemei, Tian Zhirui, Yang Qiuyun, An Yunfei, Zhang Zhiyong, Mao Huawei, Tang Xuemei, Lv Ge, Zhao Xiaodong
Abstract excerpt
Ras-related C3 botulinum toxin substrate 2 (RAC2) is a GTPase exclusively expressed in hematopoietic cells that acts as a pivotal regulator of several aspects of cell behavior via various cellular processes. RAC2 undergoes a tightly regulated GTP-binding/GTP-hydrolysis cycle, enabling it to function as a molecular switch. Mutations in RAC2 have been identified in 18 patients with different forms of primary...
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