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Article

Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.

Italian journal of pediatrics - 16 Mar 2012

Kutukculer Necil, Gulez Nesrin, Karaca Neslihan Edeer, Aksu Guzide, Berdeli Afig

Abstract excerpt

BACKGROUND: Severe combined immunodeficiency is within a heterogeneous group of inherited defects throughout the development of T- and/or B-lymphocytes. Mutations in recombinase-activating genes 1 or 2 (RAG1/2) represent approximately 10% of all SCID cases. RAG1/2 are essential for V(D)J rearrangement of the B- and T-cell receptors. OBJECTIVES: The aim of this study was to review clinical, immunological and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22424479
DOI: 10.1186/1824-7288-38-8
PMCID: PMC3394211

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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Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.PMID 22424479Read ↗

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