ArticleClinical and experimental medicine2009
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
Article in Clinical and experimental medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Case report: Identification of a Chinese patient withFrontiers in immunology · 2024Article
- Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.Journal of clinical immunology · 2015Article
- A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.The Journal of allergy and clinical immunology · 2014Article
- Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.Italian journal of pediatrics · 2012Article
- Article
- Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.Journal of clinical immunology · 2011Article
- Molecular basis of engineered meganuclease targeting of the endogenous human RAG1 locus.Nucleic acids research · 2011Article
- Article
- Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.Journal of clinical immunology · 2010Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors is responsible for T(-)B(-)NK(+)SCID. Amorphic mutations in RAG1 and RAG2 cause T(-)B(-)NK(+)SCID, whereas hypomorphic mutations cause an immunodeficency characterized by oligoclonal expansion of TCRgammadelta T cells, severe CMV infection and autoimmunity. First patient is a typical T(-)B(-)NK(+)SCID with clinical and immunologic findings while the second is atypical with normal immunoglobulin levels, CD4 lymphopenia, elevated TCRgammadelta T cells, persistent CMV infection, and autoimmune hemolytic anemia. These cases are presented to emphasize that mutations in RAG1 gene may lead to a diverse spectrum of clinical and immunologic findings while hypomorphic mutations may be related with autoimmunity and refractory CMV infection during infancy.
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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.