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Article

Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.

Journal of investigational allergology & clinical immunology - 1 Jan 2009

Sadeghi-Shabestari M, Vesal S, Jabbarpour-Bonyadi M, de Villatay J P, Fischer A, Rezaei N

Abstract excerpt

T-B-NK+ severe combined immunodeficiency (SCID) is an autosomal recessive disease that is caused mainly by a defect in the recombination activating genes (RAG). Patients with SCID usually experience life-threatening opportunistic infections in early infancy and complications after vaccination wit...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20128425

Genes

RAG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20128425-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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