Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
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
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
Schröder C et al.
Clinical Immunology (orlando, Fla.), 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
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.
Pasic S et al.
Journal of 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
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
Gruber TA et al.
Pediatric Transplantation, 2009
Partial immune reconstitution after bone marrow transplantation in a boy with recombination activating gene 1 defect.
Muñoz-Robles J et al.
Bone Marrow Transplantation, 2004
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
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