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Article

[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jan 2013

Wang Yan-qiong, Cui Yu-xia, Feng Jie

Abstract excerpt

OBJECTIVE: Omenn syndrome is a rare autosomal recessive hereditary severe combined immunodeficiency. The purpose of this study was to understand clinical characteristics and genetic mutation type of Omenn syndrome and to improve the recognition of Omenn syndrome among pediatric clinicians. METHOD: One suspected case of severe combined immunodeficiency was found to have pneumonia repeatedly, intractable diarrhea,...

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Source

Identifiers

PMID: 23527934

Genes

RAG1
RAG2

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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[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].PMID 23527934Read ↗

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Omenn syndrome in an infant with IL7RA gene mutation.Semantic proximity Read ↗

Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.Semantic proximity Read ↗

Omenn syndrome: a disorder of Rag1 and Rag2 genes.Semantic proximity Read ↗

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