Associated Papers
Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.
Srinivasan S et al.
The Journal of Allergy and Clinical Immunology, 2026
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Expanded microbiome niches of RAG-deficient patients.
Blaustein RA et al.
Cell Reports. Medicine, 2023
The RAG1 Ubiquitin Ligase Domain Stimulates Recombination of TCRβ and TCRα Genes and Influences Development of αβ T Cell Lineages.
Burn TN et al.
Journal of Immunology (baltimore, Md. : 1950), 2022
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Csomos K et al.
Nature Immunology, 2022
The RAG1 N-terminal region regulates the efficiency and pathways of synapsis for V(D)J recombination.
Beilinson HA et al.
The Journal of Experimental Medicine, 2021
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Kalina T et al.
Frontiers in Immunology, 2020
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova SO et al.
Frontiers in Immunology, 2020
Asymptomatic Infant With Atypical SCID and Novel Hypomorphic RAG Variant Identified by Newborn Screening: A Diagnostic and Treatment Dilemma.
Chitty-Lopez M et al.
Frontiers in Immunology, 2020
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical 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
RAG1-mediated ubiquitylation of histone H3 is required for chromosomal V(D)J recombination.
Deng Z et al.
Cell Research, 2015
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
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N et al.
Italian Journal of Pediatrics, 2012
VprBP binds full-length RAG1 and is required for B-cell development and V(D)J recombination fidelity.
Kassmeier MD et al.
The Embo Journal, 2012
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
Karaca NE et al.
Clinical and Experimental Medicine, 2009
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.
Simkus C et al.
Journal of Immunology (baltimore, Md. : 1950), 2007
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
Haq IJ et al.
Clinical Immunology (orlando, Fla.), 2007
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A et al.
Blood, 2001
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
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