Associated Papers
RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.
Meng X et al.
Blood Advances, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
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
Expanded microbiome niches of RAG-deficient patients.
Blaustein RA et al.
Cell Reports. Medicine, 2023
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.
Alizadeh Z et al.
Genes and Immunity, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Transplantation to save the life, TSH screening to save the brain: A report and brief literature review of autoimmune thyroid disease after HSCT for severe combined immunodeficiency.
Baccelli F et al.
Clinical Immunology (orlando, Fla.), 2022
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
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.
Naumova E et al.
Frontiers in Immunology, 2022
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S et al.
International Journal of Immunogenetics, 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
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Geier CB 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
NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.
Wu Z et al.
Microorganisms, 2019
Novel Compound Heterozygous Mutations in RAG1 in a Patient with Cutaneous Lymphoproliferative Disease.
Xu CC et al.
Acta Dermato-venereologica, 2019
Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency.
Wu KY et al.
Frontiers in Pediatrics, 2019
Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.
Erman B et al.
Scandinavian Journal of Immunology, 2017
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 hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
Abolhassani H et al.
The Journal of Allergy and Clinical Immunology, 2014
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
Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.
Sharapova SO et al.
Human Immunology, 2013
More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.
Niehues T et al.
Clinical Immunology (orlando, Fla.), 2010
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
Haq IJ et al.
Clinical Immunology (orlando, Fla.), 2007
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay JP et al.
The Journal of Clinical Investigation, 2005
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000
Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.
Goda V et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0
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