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Article

A Novel RAC2 Mutation Causing Combined Immunodeficiency.

Journal of clinical immunology - 1 Jan 2023

Zhang Liang, Lv Ge, Peng Yu, Yang Lu, Chen Junjie, An Yunfei, Zhang Zhiyong, Tang Xuemei, Li Zhihui, Zhao Xiaodong

Abstract excerpt

PURPOSE: Ras-related C3 botulinum toxin substrate 2 (RAC2) acts as a molecular switch and has crucial roles in cell signaling and actin dynamics. A broad spectrum of genetic RAC2 mutations can cause various types of primary immunodeficiency, with complete penetrance. Here, we report a novel heterozygous missense mutation in RAC2 with incomplete penetrance, and the associated phenotypes, in a Chinese family....

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Source

Identifiers

PMID: 36190591
DOI: 10.1007/s10875-022-01373-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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