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Article

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

The Journal of allergy and clinical immunology - 1 Dec 2014

Abolhassani Hassan, Wang Ning, Aghamohammadi Asghar, Rezaei Nima, Lee Yu Nee, Frugoni Francesco, Notarangelo Luigi D, Pan-Hammarström Qiang, Hammarström Lennart

Abstract excerpt

BACKGROUND: Recombination-activating gene 1 (RAG1) deficiency presents with a varied spectrum of combined immunodeficiency, ranging from a T(-)B(-)NK(+) type of disease to a T(+)B(+)NK(+) phenotype. OBJECTIVE: We sought to assess the genetic background of patients with common variable immunodeficiency (CVID). METHODS: A patient given a diagnosis of CVID, who was born to a consanguineous family and thus would be...

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Identifiers

PMID: 24996264
DOI: 10.1016/j.jaci.2014.04.042
PMCID: PMC4261008

Genes

RAG1

Variants

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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