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
Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency.
Wang C et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Tviblindi algorithm identifies branching developmental trajectories of human B-cell development and describes abnormalities in RAG-1 and WAS patients.
Bakardjieva M et al.
European Journal of Immunology, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.
Kuzmenko N et al.
Journal of Clinical Immunology, 2024
Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review.
Volodashchik TP et al.
Frontiers in Pediatrics, 2024
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Cifaldi C et al.
Journal of Clinical Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Omenn Syndrome Identified by Newborn Screening.
Tallar M et al.
Clinics in Perinatology, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
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
Primary Immunodeficiencies in Russia: Data From the National Registry.
Mukhina AA et al.
Frontiers in Immunology, 2020
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
Sharapova SO et al.
Frontiers in Immunology, 2020
Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review.
Chandrakasan S et al.
Pediatric Blood & Cancer, 2019
2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease.
Maas C et al.
Pediatric Blood & Cancer, 2018
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.
Szaflarska A et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2016
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.
John T et al.
Journal of Clinical Immunology, 2016
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Brauer PM et al.
Blood, 2016
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Buchbinder D et al.
Journal of Clinical Immunology, 2015
[STAT3 mutation in a child with hyper-IgE syndrome and incomplete clinical features].
Szaflarska A et al.
Przeglad Lekarski, 2015
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation.
Abraham RS et al.
The Journal of Allergy and Clinical Immunology, 2013