Associated Papers
Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.
Chen X et al.
Frontiers in Immunology, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing.
Erman B et al.
Pediatric Allergy, Immunology, and Pulmonology, 2020
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Geier CB et al.
Frontiers in Immunology, 2020
Combined Immunodeficiency With Late-Onset Progressive Hypogammaglobulinemia and Normal B Cell Count in a Patient With RAG2 Deficiency.
Dorna MB et al.
Frontiers in Pediatrics, 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
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
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
Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.
Yu X et al.
The Journal of Allergy and Clinical Immunology, 2014
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
Novel presentation of Omenn syndrome in association with aniridia.
Sheehan WJ et al.
The Journal of Allergy and Clinical Immunology, 2009
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
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