Associated Papers
Double-hit RAG2 mutation presenting with hyper-immunoglobulin E and preserved T cells diagnostic challenge: a case report.
Hasan FM et al.
Journal of Medical Case Reports, 2025
Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.
Boujemaa M et al.
Journal of Translational Medicine, 2025
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs.
Iancu O et al.
Molecular Therapy. Nucleic Acids, 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
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination.
Gan T et al.
Cell Reports, 2021
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO et al.
Journal of Clinical Immunology, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency.
Morris EC
Hematology. American Society of Hematology. Education Program, 2020
A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
Greenberg-Kushnir N et al.
Journal of Clinical Immunology, 2020
Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients.
Manor U et al.
Immunologic Research, 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
Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri J et al.
Frontiers in Immunology, 2019
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency.
Heiman S et al.
Immunologic Research, 2018
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
Luk ADW et al.
Frontiers in Immunology, 2017
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K et al.
Frontiers in Immunology, 2017
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD et al.
Nature Reviews. Immunology, 2016
The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients.
Lev A et al.
Plos One, 2012
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.
Lev A et al.
Clinical & Developmental Immunology, 2012
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
Dalal I et al.
Clinical Immunology (orlando, Fla.), 2011
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation.
Hönig M et al.
Current Opinion in Rheumatology, 2006
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.
Dalal I et al.
Clinical Immunology (orlando, Fla.), 2005
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
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
Corneo B et al.
The Journal of Biological Chemistry, 2000