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Article

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Journal of clinical immunology - 1 Apr 2023

Duan Xiaojun, Shen Fang, Deng Yafei, Zhang Jin, Fang Fan, Luo Zhenqing, Chen Yanping, Yang Yongjia

Abstract excerpt

Ras-related C3 botulinum toxin substrate 2 (RAC2) is a small guanine nucleotide binding molecule that is exclusively expressed in hematopoietic cell lineages as a switcher. Based on in vivo and/or in vitro model experiments, RAC2 plays important roles in different cells through proliferation, secretion, and phagocytosis. It also performs a suppressing function in immunoglobulin (Ig) switching in Rac2-/- animals...

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PMID: 36459342
DOI: 10.1007/s10875-022-01411-5

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