ArticleItalian journal of pediatrics2012
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Article in Italian journal of pediatrics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Clinical and experimental immunology · 2024Article
- Case report: Identification of a Chinese patient withFrontiers in 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
- 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
- Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.Journal of clinical immunology · 2021Article
- NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.Microorganisms · 2019Article
- Predicting the Occurrence of Variants in RAG1 and RAG2.Journal of clinical immunology · 2019Article
- Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.Journal of clinical medicine research · 2016Article
- History and current status of newborn screening for severe combined immunodeficiency.Seminars in perinatology · 2015Review
- A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.The Journal of allergy and clinical immunology · 2014Article
- Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.Journal of clinical immunology · 2014Review
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5 authors.
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Abstract
backgroundSevere combined immunodeficiency is within a heterogeneous group of inherited defects throughout the development of T- and/or B-lymphocytes. Mutations in recombinase-activating genes 1 or 2 (RAG1/2) represent approximately 10% of all SCID cases. RAG1/2 are essential for V(D)J rearrangement of the B- and T-cell receptors.
objectivesThe aim of this study was to review clinical, immunological and molecular findings of Turkish SCID patients with RAG1 defects and to draw attention to novel mutations, genotype-phenotype correlations and the high rate of BCG infections within this group.
methodsEleven patients (F/M: 6/5) were included. Molecular, immunological and clinical data were evaluated.
resultsFive patients were classified as T-B-NK + SCID, four patients as T + B-NK + SCID (two of these patients were diagnosed as classical Omenn syndrome) and two patients as T + B + NK + SCID with respect to clinical presentations and immunological data. Mean age of the whole study group, mean age at onset of symptoms and mean age at diagnosis were: 33.0 ± 42.8, 3.1 ± 3.3 and 10.4 ± 13.5 months, respectively. Consanguinity rate was 54%. Some novel mutations were found in RAG1 gene in addition to previously reported mutations. Genotype-phenotype correlation was not significantly apparent in most of the cases. BCG infection was observed in 36.4% of patients (two BCG-osis and two BCG-itis).
conclusionEpigenetic factors such as compound genetic defects, enviromental factors, and exposure to recurrent infections may modify phenotypical characteristics of RAG deficiencies. Inoculation of live vaccines such as BCG should be postponed until primary immunodeficiency disease is excluded with appropriate screening tests in suspected cases.
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