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Article

RAG1 reversion mosaicism in a patient with Omenn syndrome.

Journal of clinical immunology - 1 Jul 2014

Crestani Elena, Choo Sharon, Frugoni Francesco, Lee Yu Nee, Richards Stephanie, Smart Joanne, Notarangelo Luigi D

Abstract excerpt

PURPOSE: To identify mechanisms of disease in a child born to consanguineous parents, who presented with Omenn syndrome (OS) and was found to carry a heterozygous RAG1 mutation in peripheral blood DNA. METHODS: Mutation analysis was performed on whole blood and buccal swab DNA. Recombination activity of the mutant RAG1 protein and diversity of T cell repertoire were tested. RESULTS: Apparent heterozygosity for a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24817258
DOI: 10.1007/s10875-014-0051-2
PMCID: PMC4074377

Genes

RAG1

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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