ArticleBlood2008
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
Article in Blood, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells.Journal of clinical immunology · 2025Article
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.Blood · 2020Review
- Recent advances in understanding RAG deficiencies.F1000Research · 2019Review
- RAG gene defects at the verge of immunodeficiency and immune dysregulation.Immunological reviews · 2019Review
- RAGs and BUGS: An alliance for autoimmunity.Gut microbes · 2016Article
- Human RAG mutations: biochemistry and clinical implications.Nature reviews. Immunology · 2016Review
- Article
- Acquired Omenn-like syndrome, a novel posttransplant autoaggression syndrome reversed by rapamycin.Clinical and vaccine immunology : CVI · 2012Article
- Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.PLoS biology · 2011Article
- Critical role for the chemokine receptor CXCR6 in NK cell-mediated antigen-specific memory of haptens and viruses.Nature immunology · 2010Article
- Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.Clinical and experimental medicine · 2009Article
- Invariant natural killer (iNK) T cell deficiency in patients with common variable immunodeficiency.Clinical and experimental immunology · 2009Article
- The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function.The Journal of experimental medicine · 2009Article
- Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.Journal of clinical immunology · 2008Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T(-) B(-) severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Invariant natural killer T (iNKT) cells play an important immunoregulatory role and have been associated with protection against autoimmunity. We now report on 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, and demonstrate the absence of iNKT cells in all 5 patients. These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome.
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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.