Associated Papers
Efficient Installation of Heterozygous Mutations in Human Pluripotent Stem Cells Using Prime Editing.
Suter A et al.
The Crispr Journal, 2025
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.
Castiello MC et al.
Science Translational Medicine, 2024
Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.
Chen X et al.
Frontiers in Immunology, 2024
Expanded microbiome niches of RAG-deficient patients.
Blaustein RA et al.
Cell Reports. Medicine, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
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
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z et al.
Immunology Letters, 2019
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders.
Chi ZH et al.
Medicine, 2018
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
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.
Ulusoy E et al.
Journal of Clinical Medicine Research, 2016
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.
Bai X et al.
Immunologic Research, 2016
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).
Sharapova SO et al.
Journal of Clinical 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
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