Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Monogenic inborn errors of immunity in autoimmune disorders.
Venkatachari IV et al.
Immunologic Research, 2023
Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
Mou W et al.
Immunogenetics, 2023
Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency.
Chitty Lopez M et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.
Ruan Y et al.
World Journal of Pediatrics : Wjp, 2022
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M et al.
European Journal of Immunology, 2021
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
Villa A et al.
Frontiers in Immunology, 2020
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS et al.
Clinical and Experimental Immunology, 2019
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
RAG gene defects at the verge of immunodeficiency and immune dysregulation.
Villa A et al.
Immunological Reviews, 2019
Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.
Ott de Bruin LM et al.
Blood, 2018
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2018
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Yu H et al.
The Journal of Allergy and Clinical Immunology, 2016
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
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
Meshaal S et al.
Clinical Immunology (orlando, Fla.), 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
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.
Wong SY et al.
Journal of Immunology (baltimore, Md. : 1950), 2008
Unravelling the association of partial T-cell immunodeficiency and immune dysregulation.
Liston A et al.
Nature Reviews. Immunology, 2008
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C et al.
The New England Journal of Medicine, 2008
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
Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase.
Huye LE et al.
Molecular and Cellular Biology, 2002
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
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