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Article

[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016

Xu Yongbin, Chen Yubing, Chen Huishan, Zeng Huasong

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic mutations in two children with Omenn syndromes. METHODS: Peripheral venous blood samples were collected from 2 children suspected with severe combined immunodeficiency (SCID) and their family members. The samples were subjected to RAG1 and RAG2 gene sequencing and TCR Vβ subclone analysis. RESULTS: Both patients had recurrent infections, erythroderma...

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Identifiers

PMID: 26829731
DOI: 10.3760/cma.j.issn.1003-9406.2016.01.010

Genes

RAG1
RAG2

Variants

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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