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
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Bosticardo M et al.
Science Immunology, 2025
Omenn syndrome: A rare manifestation of severe combined immunodeficiency masquerading as drug reaction with eosinophilia and systemic symptoms.
Forbes EM et al.
Journal of Paediatrics and Child Health, 2024
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Chen R et al.
Science Immunology, 2024
The thymocyte-specific RNA-binding protein Arpp21 provides TCR repertoire diversity by binding to the 3'-UTR and promoting Rag1 mRNA expression.
Xu M et al.
Nature Communications, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
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
B cell abnormalities and autoantibody production in patients with partial RAG deficiency.
Min Q et al.
Frontiers in Immunology, 2023
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA et al.
Journal of Clinical 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
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination.
Gan T et al.
Cell Reports, 2021
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System.
Gardner CL et al.
Journal of Clinical Immunology, 2021
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M et al.
European Journal of Immunology, 2021
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
A Spontaneous RAG1 Nonsense Mutation Unveils Naturally Occurring N-Terminal Truncated RAG1 Isoforms.
Burn TN et al.
Immunohorizons, 2020
Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.
Delmonte OM et al.
Blood, 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
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
Villa A et al.
Frontiers in Immunology, 2020
Predicting the Occurrence of Variants in RAG1 and RAG2.
Lawless D et al.
Journal of Clinical Immunology, 2019
The R229Q mutation of Rag2 does not characterize severe immunodeficiency in mice.
Jin Y et al.
Scientific Reports, 2019
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS et al.
Clinical and Experimental Immunology, 2019
RAG gene defects at the verge of immunodeficiency and immune dysregulation.
Villa A et al.
Immunological Reviews, 2019
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
Capo V et al.
The Journal of Allergy and Clinical Immunology, 2018
Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.
El Hawary RE et al.
Molecular Diagnosis & Therapy, 2017
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Brauer PM et al.
Blood, 2016
Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes.
Ott de Bruin L et al.
Oncotarget, 2016
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
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.
van Til NP et al.
The Journal of Allergy and Clinical Immunology, 2014
Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration.
Maina V et al.
Journal of Leukocyte Biology, 2013
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
Chou J et al.
The Journal of Allergy and Clinical Immunology, 2012
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications.
Marrella V et al.
Blood, 2012
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Walter JE et al.
The Journal of Experimental Medicine, 2010
Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID).
Schuetz C et al.
Autoimmunity Reviews, 2010
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Poliani PL et al.
Blood, 2009
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
McCusker C et al.
Clinical Immunology (orlando, Fla.), 2009
V(D)J recombination deficiencies.
de Villartay JP
Advances in Experimental Medicine and Biology, 2009
Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
Villa A et al.
The Journal of Allergy and Clinical Immunology, 2008
Primary immune deficiencies with aberrant IgE production.
Ozcan E et al.
The Journal of Allergy and Clinical Immunology, 2008
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
Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental models.
Milner JD et al.
Journal of Clinical Immunology, 2008
DNA damage and repair: from molecular mechanisms to health implications.
Altieri F et al.
Antioxidants & Redox Signaling, 2008
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
Matangkasombut P et al.
Blood, 2008