Associated Papers
Additive effects of common and rare genetic variants on inflammatory bowel disease risk in a cohort with immunodeficiency.
Srinivasan S et al.
The Journal of Allergy and Clinical Immunology, 2026
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity.
Do Carmo AP et al.
Acta Dermato-venereologica, 2025
Expanded microbiome niches of RAG-deficient patients.
Blaustein RA et al.
Cell Reports. Medicine, 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
Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency.
Dvorak CC et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2019
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.
Schröder C et al.
Clinical Immunology (orlando, Fla.), 2017
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
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
Kojima D et al.
The Journal of Allergy and Clinical Immunology, 2016
Human RAG mutations: biochemistry and clinical implications.
Notarangelo LD et al.
Nature Reviews. 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
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
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen K et al.
The Journal of Allergy and Clinical Immunology, 2014
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
Kwan A et al.
The Journal of Allergy and Clinical Immunology, 2013
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N et al.
Italian Journal of Pediatrics, 2012
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.
Kuijpers TW et al.
Blood, 2011
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E et al.
Clinical Immunology (orlando, Fla.), 2011
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
Gruber TA et al.
Pediatric Transplantation, 2009
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.
Schönberger S et al.
Clinical Immunology (orlando, Fla.), 2009
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