Associated Papers
Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.
Chen X et al.
Frontiers in Immunology, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
A novel homozygous RAG1 mutation in a girl presenting with granulomas and alopecia capitis totalis.
Ruan Y et al.
World Journal of Pediatrics : Wjp, 2022
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M et al.
European Journal of Immunology, 2021
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Geier CB et al.
Frontiers in Immunology, 2020
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
Villa A et al.
Frontiers in Immunology, 2020
Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.
Ott de Bruin LM et al.
Blood, 2018
2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 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
Characterization of T and B cell repertoire diversity in patients with RAG deficiency.
Lee YN et al.
Science Immunology, 2016
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD et al.
Nature Reviews. Immunology, 2016
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL et al.
The Journal of Allergy and Clinical Immunology, 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
Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.
Henderson LA et al.
The Journal of Allergy and Clinical Immunology, 2013
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