Associated Papers
The Skin Tells the Story: Early Signs of Inborn Errors of Immunity.
Meric Z et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2026
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B et al.
Clinical and Experimental Immunology, 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
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Cifaldi C et al.
Journal of Clinical Immunology, 2022
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
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
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
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.
Ulusoy E et al.
Journal of Clinical Medicine Research, 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
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
More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.
Niehues T et al.
Clinical Immunology (orlando, Fla.), 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
Matangkasombut P et al.
Blood, 2008
A variant of SCID with specific immune responses and predominance of gamma delta T cells.
Ehl S et al.
The Journal of Clinical Investigation, 2005
Amino acid residues in RAG1 responsible for the interaction with RAG2 during the V(D)J recombination process.
Ko JE et al.
The Journal of Biological Chemistry, 2004
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Corneo B et al.
Blood, 2001
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
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A et al.
Journal of Clinical Immunology, 1999
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A et al.
Cell, 1998
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