Associated Papers
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B et al.
Clinical and Experimental Immunology, 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
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
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Geier CB et al.
Frontiers in Immunology, 2020
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
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.
John T et al.
Journal of Clinical Immunology, 2016
Molecular Mechanism of V(D)J Recombination from Synaptic RAG1-RAG2 Complex Structures.
Ru H et al.
Cell, 2015
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
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