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
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
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
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
Corneo B et al.
The Journal of Biological Chemistry, 2000
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A et al.
Journal of Clinical Immunology, 1999
The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis.
Callebaut I et al.
Cellular and Molecular Life Sciences : Cmls, 1998
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A et al.
Cell, 1998
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