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Article

Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.

Immunogenetics - 1 Aug 2023

Mou Wenjun, Yang Zixin, Wang Xiaojiao, Hei Mingyan, Wang Yajuan, Gui Jingang

Abstract excerpt

The recombination activating gene 1 (RAG1) is essential for V(D)J recombination during T- and B-cell development. In this study, we presented a case study of a 41-day-old female infant who exhibited symptoms of generalized erythroderma, lymphadenopathy, hepatosplenomegaly, and recurrent infections including suppurative meningitis and septicemia. The patient showed a T+B-NK+ immunophenotype. We observed an...

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Identifiers

PMID: 37269334
DOI: 10.1007/s00251-023-01309-5

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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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Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.PMID 37269334Read ↗

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