Associated Papers
Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.
Chen X et al.
Frontiers in Immunology, 2024
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
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
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS et al.
Clinical and Experimental Immunology, 2019
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Deng J et al.
Frontiers in Genetics, 2019
Genetic Counseling in Primary Immunodeficiency Disorders: An Emerging Experience in Egypt.
El Hawary RE et al.
Molecular Diagnosis & Therapy, 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
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
Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Matthews AG et al.
Plos One, 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
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.
Grunebaum E et al.
The Journal of Allergy and Clinical Immunology, 2012
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N et al.
Italian Journal of Pediatrics, 2012
Analysis of mutations and recombination activity in RAG-deficient patients.
Asai E et al.
Clinical Immunology (orlando, Fla.), 2011
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