ArticleThe Journal of allergy and clinical immunology2014
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
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 104 papers.
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Who cites it
104 citing papers in PubMed, 144 citations in OpenAlex.
- RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.Blood advances · 2025Trial
- Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2019Trial
- Allogeneic hematopoietic cell transplantation for partial RAG deficiency in children and adults: Excellent outcomes with a reduced-intensity posttransplantation cyclophosphamide-based approach.The Journal of allergy and clinical immunology · 2026Article
- From PGT-M discovery to mechanism: functional validation of novel compound heterozygous RAG1 mutations in severe combined immunodeficiency.Journal of assisted reproduction and genetics · 2026Article
- Igh nuclear speckle association promotes V(D)J recombination.Nature communications · 2026Article
- Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population.NPJ breast cancer · 2026Article
- Evolutionary insights and structural characterization guide the development of RAG1/RAG2-deficient swine models for immunological research.Frontiers in immunology · 2026Article
- Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.Immunologic research · 2025Review
- Generating combinatorial diversity via engineered V(D)J-like recombination in Saccharomyces cerevisiae.Nature communications · 2025Article
- Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.Science immunology · 2025Article
- RAG recombinase expression discriminates the development of natural killer cells.Frontiers in immunology · 2025Article
- Exuberant long noncoding RNA expression may sculpt Igh locus topology.Frontiers in immunology · 2025Article
- Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells.Biomedicines · 2024Article
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Mending RAG2: gene editing for treatment of RAG2 deficiency.Blood advances · 2024Article
- Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.Molecular biology reports · 2024Article
- Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.Blood advances · 2024Article
- Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.Science translational medicine · 2024Article
- Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Clinical and experimental immunology · 2024Article
- Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder SlavicFrontiers in pediatrics · 2024Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
29 authors at 19 institutions in 8 countries.
Funding
Abstract
backgroundThe recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe combined immune deficiency to delayed-onset disease with granuloma formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of phenotypes.
objectiveWe sought to investigate the molecular basis for phenotypic diversity presented in patients with various RAG1 mutations.
methodsWe have developed a flow cytometry-based assay that allows analysis of RAG recombination activity based on green fluorescent protein expression and have assessed the induction of the Ighc locus rearrangements in mouse Rag1(-/-) pro-B cells reconstituted with wild-type or mutant human RAG1 (hRAG1) using deep sequencing technology.
resultsHere we demonstrate correlation between defective recombination activity of hRAG1 mutant proteins and severity of the clinical and immunologic phenotype and provide insights on the molecular mechanisms accounting for such phenotypic diversity.
conclusionsUsing a sensitive assay to measure the RAG1 activity level of 79 mutations in a physiologic setting, we demonstrate correlation between recombination activity of RAG1 mutants and the severity of clinical presentation and show that RAG1 mutants can induce specific abnormalities of the VDJ recombination process.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.