ArticleThe Journal of allergy and clinical immunology2014
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
Article in The Journal of allergy and clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.Immunologic research · 2025Article
- A Broad Spectrum of Liver Manifestations in Common Variable Immunodeficiency Syndrome-Two Case Reports and a Literature Overview.Diagnostics (Basel, Switzerland) · 2025Article
- Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy.Medicina (Kaunas, Lithuania) · 2025Review
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Granulomatous liver diseases.Hepatology communications · 2024Review
- Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Clinical and experimental immunology · 2024Article
- Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency.The journal of allergy and clinical immunology. In practice · 2023Article
- The recombinase activating genes: architects of immune diversity during lymphocyte development.Frontiers in immunology · 2023Review
- B cell abnormalities and autoantibody production in patients with partial RAG deficiency.Frontiers in immunology · 2023Review
- SARS-CoV-2 infection in patients with inborn errors of immunity due to DNA repair defects.Acta biochimica et biophysica Sinica · 2022Review
- A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.World journal of pediatrics : WJP · 2022Article
- T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.Journal of clinical immunology · 2022Article
- Development and characterization of a CRISPR/Cas9-mediatedFrontiers in immunology · 2022Article
- RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production.JCI insight · 2021Article
- RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.European journal of immunology · 2021Review
- Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.Journal of clinical immunology · 2021Article
- Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.Frontiers in immunology · 2021Observational
- Recent advances in elucidating the genetics of common variable immunodeficiency.Genes & diseases · 2020Review
- Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.Journal of clinical immunology · 2020Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundRecombination-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.
objectiveWe sought to assess the genetic background of patients with common variable immunodeficiency (CVID).
methodsA patient given a diagnosis of CVID, who was born to a consanguineous family and thus would be expected to show an autosomal recessive inheritance, was subjected to clinical evaluation, immunologic assays, homozygosity gene mapping, exome sequencing, Sanger sequencing, and functional analysis.
resultsThe 14-year-old patient, who had liver granuloma, extranodal marginal zone B-cell lymphoma, and autoimmune neutropenia, presented with a clinical picture resembling CVID. Genetic analysis of this patient showed a homozygous hypomorphic RAG1 mutation (c.1073 G>A, p.C358Y) with a residual functional capacity of 48% of wild-type protein.
conclusionOur finding broadens the range of disorders associated with RAG1 mutations and might have important therapeutic implications.
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Registered trials
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