Associated Papers
Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.
Fayyaz H et al.
Molecular Biology Reports, 2024
Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review.
Volodashchik TP et al.
Frontiers in Pediatrics, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).
Riaz IB et al.
Frontiers in Immunology, 2019
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD et al.
Nature Reviews. Immunology, 2016
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL et al.
The Journal of Allergy and Clinical Immunology, 2015
A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
Abolhassani H et al.
The Journal of Allergy and Clinical Immunology, 2014
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN et al.
The Journal of Allergy and Clinical Immunology, 2014
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.
Schuetz C et al.
The Journal of Allergy and Clinical Immunology, 2014
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C et al.
The New England Journal of Medicine, 2008
The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development.
Jones JM et al.
Archivum Immunologiae Et Therapiae Experimentalis, 0
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