Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
41727503 (PubMed )
Supplement: Table1.xlsx › Table_S1
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
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE 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
32655540 (PubMed )
Supplement: Table_1.xlsx › RAG1
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Brauer PM et al.
Blood, 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
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
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
Santagata S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2000
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
Identification of two catalytic residues in RAG1 that define a single active site within the RAG1/RAG2 protein complex.
Fugmann SD et al.
Molecular Cell, 2000
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Villa A et al.
Prenatal Diagnosis, 2000
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