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Article

Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.

Immunologic research - 1 Apr 2016

Bai Xiaoming, Liu Jing, Zhang Zhiyong, Liu Chaohong, Zhang Yongjie, Tang Wenjing, Dai Rongxin, Wu Junfeng, Tang Xuemei, Zhang Yu, Ding Yuan, Jiang Liping, Zhao Xiaodong

Abstract excerpt

Mutations in Recombination Activating Genes (RAG1 and RAG2) are common genetic causes of severe combined immunodeficiency (SCID) and Omenn syndrome (OS). The clinical, immunologic, and genetic characteristics of RAG mutations in Chinese patients with SCID or OS have not been studied in detail. In this research, 22 RAG mutations were identified in 15 Chinese patients, including 10 novel mutations in RAG1 (R108X,...

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Source

Identifiers

PMID: 26476733
DOI: 10.1007/s12026-015-8723-4

Genes

RAG1
RAG2

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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