Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort.
Hahn E et al.
Npj Genomic Medicine, 2025
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and Autoimmunity.
Spivak I et al.
Clinical and Experimental Immunology, 2024
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV et al.
Journal of Clinical Immunology, 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
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
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Cifaldi C 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
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO et al.
Journal of Clinical Immunology, 2021
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z et al.
Immunology Letters, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
Dalal I et al.
Clinical Immunology (orlando, Fla.), 2011
IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
Safaei S et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2011
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
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
Tabori U et al.
Clinical Genetics, 2004
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A et al.
Blood, 2001
The genetic and biochemical basis of Omenn syndrome.
Santagata S et al.
Immunological Reviews, 2000