Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
37854700 (PubMed )
Supplement: mmc2.xlsx › Table_S1_RAG1_Scores_125_74
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
Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Matthews AG et al.
Plos One, 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
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
Zhang ZY et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2011
Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies.
Pessach IM et al.
The Journal of Allergy and Clinical Immunology, 2011
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
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