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Article

A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.

BMC pediatrics - 3 Feb 2023

Zhang Xinping, Kang Xiayan, Yang Meiyu, Cai Zili, Song Yulei, Zhou Xiong, Cao Jianshe, Wang Chengjuan, Huang Kang, Peng Yani, He Jie, Xiao Zhenghui

Abstract excerpt

BACKGROUND: The recombination-activating gene 1 (RAG1) protein is essential for the V (variable)-D (diversity)-J (joining) recombination process. Mutations in RAG1 have been reported to be associated with several types of immune disorders. Typical clinical features driven by RAG1 variants include persistent infections, severe lymphopenia, and decreased immunoglobulin levels . CASE PRESENTATION: In this study, a...

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Identifiers

PMID: 36732712
DOI: 10.1186/s12887-022-03822-0
PMCID: PMC9896705

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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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