Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
Mou W et al.
Immunogenetics, 2023
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Omenn Syndrome Identified by Newborn Screening.
Tallar M et al.
Clinics in Perinatology, 2020
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
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Geier CB et al.
Frontiers in Immunology, 2020
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 2018
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
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
Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency.
Walshe D et al.
The Journal of Allergy and Clinical Immunology, 2009
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
Kato M et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2006
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
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
Wada T et al.
Clinical and Experimental Immunology, 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