Associated Papers
From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.
Taghizadeh Mortezaei N et al.
Bmc Pediatrics, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
37854700 (PubMed )
Supplement: mmc3.xlsx › Table_S2_RAG2_Scores_57_74
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.
Somekh I et al.
Immunologic Research, 2021
Predicting the Occurrence of Variants in RAG1 and RAG2.
Lawless D et al.
Journal of Clinical Immunology, 2019
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I et al.
The Journal of Allergy and Clinical Immunology, 2019
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS et al.
Clinical and Experimental Immunology, 2019
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens.
Geier CB et al.
Plos One, 2015
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
Tabori U et al.
Clinical Genetics, 2004
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
Gomez CA et al.
Molecular and Cellular Biology, 2000
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
Farmer JR et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0
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