Associated Papers
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.
Castiello MC et al.
Science Translational Medicine, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Expanded microbiome niches of RAG-deficient patients.
Blaustein RA et al.
Cell Reports. Medicine, 2023
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Cifaldi C et al.
Journal of Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD et al.
American Journal of Medical Genetics. Part A, 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
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
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
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
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