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Article

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

Clinical and experimental medicine - 1 Dec 2009

Karaca Neslihan Edeer, Aksu Guzide, Genel Ferah, Gulez Nesrin, Can Sema, Aydinok Yesim, Aksoylar Serap, Karaca Emin, Altuglu Imren, Kutukculer Necil

Abstract excerpt

Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors is responsible for T(-)B(-)NK(+)SCID. Amorphic mutations in RAG1 and RAG2 cause T(-)B(-)NK(+)SCID, whereas...

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Source

Identifiers

PMID: 19458910
DOI: 10.1007/s10238-009-0053-1

Genes

RAG1
RAG2
LIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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