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
Mutational analysis in different genes underlying severe combined immunodeficiency in seven consanguineous Pakistani families.
Fayyaz H et al.
Molecular Biology Reports, 2024
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
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
32655540 (PubMed )
Supplement: Table_1.xlsx › RAG1
Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.
Olivier M et al.
Plos One, 2019
30653559 (PubMed )
Supplement: pone.0210372.s001.xlsx › Table_C
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
Kumánovics A et al.
The Journal of Allergy and Clinical Immunology, 2017
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
Combined immunodeficiencies: twenty years experience from a single center in Turkey.
Akar HH et al.
Central-european Journal of 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
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
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