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Article

Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jun 2009

Pasic Srdjan, Djuricic Slavisa, Ristic Goran, Slavkovic Bojana

Abstract excerpt

UNLABELLED: We report different immunological phenotypes in three siblings from consanguineous family with recombinase-activating gene 1 (RAG1) gene mutations. Null mutations of RAG genes result in severe combined immunodeficiency (SCID) with absent T and B cells. Hypomorphic mutations with retained activity of RAG genes may lead to a 'leaky' SCID with some features of Omenn syndrome (OS) or typical OS. In our...

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Source

Identifiers

PMID: 19243569
DOI: 10.1111/j.1651-2227.2009.01250.x

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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