Associated Papers
Pretransplant ribavirin and interferon-α therapy for rhinovirus interstitial pneumonia in a RAG1-deficient infant.
Harada N et al.
Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy, 2024
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
Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan.
Tanita K et al.
Frontiers in Immunology, 2022
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M et al.
European Journal of Immunology, 2021
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
Villa A 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
Predicting the Occurrence of Variants in RAG1 and RAG2.
Lawless D et al.
Journal of Clinical Immunology, 2019
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome.
Shen J et al.
Frontiers in Genetics, 2019
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
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
Kumánovics A et al.
The Journal of Allergy and Clinical Immunology, 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 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
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
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.
Schuetz C 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
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.
Schönberger S et al.
Clinical Immunology (orlando, Fla.), 2009
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
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0