Associated Papers
Hemophagocytic Lymphohistiocytosis/Macrophage Activation Syndrome in pediatric Inflammatory Bowel Disease: clinical characteristics and outcomes.
Bramuzzo M et al.
European Journal of Pediatrics, 2024
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
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours.
McCreary D et al.
Frontiers in Immunology, 2022
A heterozygous mutation in the RAG2 gene with cutaneous and systemic manifestations partially resembling Omenn syndrome.
Estébanez A et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2021
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS et al.
Clinical and Experimental Immunology, 2019
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
Meshaal S et al.
Clinical Immunology (orlando, Fla.), 2015
The kinetics of early T and B cell immune recovery after bone marrow transplantation in RAG-2-deficient SCID patients.
Lev A et al.
Plos One, 2012
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