Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.
Taghizadeh Mortezaei N et al.
Bmc Pediatrics, 2024
Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening.
Soomann M et al.
Journal of Clinical Immunology, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Csomos K et al.
Nature Immunology, 2022
35902638 (PubMed )
Supplement: 41590_2022_1271_MOESM1_ESM.xlsx › Table_2
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_3.xlsx › RAG2
Predicting the Occurrence of Variants in RAG1 and RAG2.
Lawless D et al.
Journal of Clinical Immunology, 2019
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.
Tirosh I et al.
The Journal of Allergy and Clinical Immunology, 2019
Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency.
Wu KY et al.
Frontiers in Pediatrics, 2019
An immunodeficiency disease with RAG mutations and granulomas.
Schuetz C et al.
The New England Journal of Medicine, 2008
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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