ReviewNature reviews. Immunology2016
Human RAG mutations: biochemistry and clinical implications.
Review in Nature reviews. Immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 137 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
137 citing papers in PubMed, 221 citations in OpenAlex.
- RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.Blood advances · 2025Trial
- Acute Hemorrhagic Leukoencephalitis in a Child with RAG1-Associated Severe Combined Immunodeficiency.Indian journal of pediatrics · 2026Article
- Thymic APC Networks Orchestrate T-Cell Selection: Mechanisms and Therapeutic Opportunities in Immune Disorders.Immunology · 2026Review
- Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.Clinical and experimental immunology · 2026Article
- The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Case Report: Infant with vaccine-associated paralytic poliomyelitis unveils global disparities in care for inborn errors of immunity.Frontiers in immunology · 2026Article
- Case report: Persistent hypogammaglobulinemia following hematopoietic stem cell transplantation from a sibling donor with heterozygous RAG1 mutation.Frontiers in immunology · 2026Article
- Perinatal γδ T cells: between invariance and diversity.Frontiers in immunology · 2026Review
- Human interferon-ω: an underappreciated type I interferon.Frontiers in immunology · 2026Review
- Calibrated Variant Effect Prediction at the Residue Level Using Conditional Score Distributions.bioRxiv : the preprint server for biology · 2025Article
- Rubella-associated granuloma in a patient with a compound heterozygous RAG1 defect and review of the literature.Immunologic research · 2025Review
- Pre-TCR-targeted immunotherapy for T cell acute lymphoblastic leukemia.Nature immunology · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Factors associated with and kinetics of anti-IFN-α autoantibodies inThe journal of allergy and clinical immunology. Global · 2025Article
- Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report.BMC infectious diseases · 2025Article
- Diverse Subsets of γδT Cells and Their Specific Functions Across Liver Diseases.International journal of molecular sciences · 2025Review
- To cleave or not and how? The DNA exonucleases and endonucleases in immunity.Genes & diseases · 2025Review
- How (Ultra-)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases.ACR open rheumatology · 2025Review
- Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.Journal of clinical immunology · 2025Article
- Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.Science immunology · 2025Article
77 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The recombination-activating gene 1 (RAG1) and RAG2 proteins initiate the V(D)J recombination process, which ultimately enables the generation of T cells and B cells with a diversified repertoire of antigen-specific receptors. Mutations of the RAG genes in humans are associated with a broad spectrum of clinical phenotypes, ranging from severe combined immunodeficiency to autoimmunity. Recently, novel insights into the phenotypic diversity of this disease have been provided by resolving the crystal structure of the RAG complex, by developing novel assays to test recombination activity of the mutant RAG proteins and by characterizing the molecular and cellular basis of immune dysregulation in patients with RAG deficiency.
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What OpenQuestion holds
Registered trials
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.