ArticleFrontiers in immunology2020
The Clinical and Genetic Spectrum of 82 Patients With
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Article in Frontiers in immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
0.9field-weighted citation impact, top 27% of its field
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Who cites it
14 citing papers in PubMed, 19 citations in OpenAlex.
- Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome andFrontiers in immunology · 2020Trial
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- Evolutionary preservation of CpG dinucleotides in RAG1 may elucidate the relatively high rate of methylation-mediated mutagenesis of RAG1 transposase.Immunologic research · 2024Article
- Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.Journal of clinical immunology · 2024Article
- Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Clinical and experimental immunology · 2024Article
- Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder SlavicFrontiers in pediatrics · 2024Article
- BCG Moreau Polish Substrain Infections in Patients With Inborn Errors of Immunity: 40 Years of Experience in the Department of Immunology, Children's Memorial Health Institute, Warsaw.Frontiers in pediatrics · 2022Article
- Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.Journal of clinical immunology · 2022Article
- RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.European journal of immunology · 2021Review
- Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.Diagnostics (Basel, Switzerland) · 2021Article
- Impact of the J Project on progress of primary immunodeficiency care in Ukraine.Central-European journal of immunology · 2021Review
- Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.Frontiers in immunology · 2020Article
- BCG Moreau Vaccine Safety Profile and NK Cells-Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency.Journal of clinical immunology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
52 authors at 20 institutions in 13 countries.
Svetlana O SharapovaResearch Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus.
Małgorzata Skomska-PawliszakDepartment of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Yulia A RodinaDepartment of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Beata Wolska-KuśnierzDepartment of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Nel Dabrowska-LeonikDepartment of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Bozena MikołućDepartment of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, Bialystok, Poland.
Olga E PashchenkoImmunology Department, Pirogov Russian National Research Medical University, Moscow, Russia.
Srdjan PasicPediatric Immunology, Medical Faculty, Mother and Child Health Institute, University of Belgrade, Belgrade, Serbia.
Tomáš FreibergerCentre for Cardiovascular Surgery and Transplantation, Brno, Czechia.
Tomáš MilotaDepartment of Immunology, University Hospital Motol, Prague, Czechia.
Renata FormánkováDepartment of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czechia.
Anna SzaflarskaDepartment of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.
Maciej SiedlarDepartment of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.
Tadej AvčinUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Gašper MarkeljUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peter CiznarPediatric Department, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
Krzysztof KalwakDepartment of Pediatric Hematology/Oncology and BMT, Wroclaw Medical University, Wroclaw, Poland.
Sylwia KołtanDepartment of Pediatrics, Hematology and Oncology Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
Teresa JackowskaDepartment of Pediatrics, Medical Center of Postgraduate Education, Warsaw, Poland.
Katarzyna DrabkoDepartment of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.
Alenka GagroDepartment of Pediatrics, School of Medicine, Zagreb Children's Hospital, University of Zagreb, Zagreb, Croatia.
Małgorzata PacDepartment of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Elissaveta NaumovaDepartment of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria.
Snezhina KandilarovaDepartment of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria.
Katarzyna Babol-PokoraDepartment of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
Dzmitry S VarabyouDepartment of Geographical Ecology, Belarusian State University, Minsk, Belarus.
Barbara H BarendregtDepartment of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
Elena V RaykinaLaboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Tatiana V VarlamovaLaboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anna V PavlovaLaboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Hana GrombirikovaCentre for Cardiovascular Surgery and Transplantation, Brno, Czechia.
Maruša DebeljakUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Irina V MersiyanovaLaboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Anastasiia V BondarenkoDepartment of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine.
Liudmyla I ChernyshovaDepartment of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine.
Larysa V KostyuchenkoPediatric Department, West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine.
Marina N GusevaConsulting Center of Pediatric Medical Academy, St. Petersburg, Russia.
Jelena RasconCenter for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania.
Audrone MulevicieneCenter for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania.
Egle PreiksaitieneHematology, Oncology and Transfusion Medicine Center, Vilnius University, Vilnius, Lithuania.
Christoph B GeierImmunology Outpatient Clinic, Vienna, Austria.
Alexander Leiss-PillerImmunology Outpatient Clinic, Vienna, Austria.
Yasuhiro YamazakiLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Tomoki KawaiLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Jolan E WalterUniversity of South Florida at Johns Hopkins All Children's Hospital, Saint Petersburg, FL, United States.
Irina V KondratenkoDepartment of Clinical Immunology, Russian Clinical Children's Hospital by Pirogov Russian National Research Medical University, Moscow, Russia.
Anna ŠediváDepartment of Immunology, University Hospital Motol, Prague, Czechia.
Mirjam van der BurgDepartment of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
Natalia B KuzmenkoDepartment of Epidemiology and Monitoring of Primary Immunodeficiencies, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
Ewa BernatowskaDepartment of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Olga V AleinikovaResearch Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus.
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology · RUChildren's Memorial Health Institute · PLVilnius University · LTAlexandrovska Hospital · BGBelarusian Research Center For Pediatric Oncology and Hematology · BYCharles University · CZErasmus MC · NLNational Institute of Allergy and Infectious Diseases · USPirogov Russian National Research Medical University · RUShupyk National Healthcare University of Ukraine · UAUniversity of Ljubljana · SIBelarusian State University · BYBoston Children's Hospital · USCentrum kardiovaskulární a transplantační chirurgie · CZCollegium Medicum in Bydgoszcz · PLComenius University Bratislava · SKJagiellonian University · PLLjubljana University Medical Centre · SILviv City Children's Hospital · UAMasaryk University · CZ
Funding
Modeling and correcting human SCID using patient-derived iPS cellsR01AI100887 · NIAID · BOSTON CHILDREN'S HOSPITAL · PI MANIS, JOHN P · 2012 to 2020
$4.5MNIAID NIH HHS R01 AI100887
Abstract
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Indexed as
GenotypeWhite PeopleAdolescentChildChild, PreschoolDNA-Binding ProteinsFemaleGene FrequencyHomeodomain ProteinsHumansImmunologic Deficiency SyndromesIncidenceInfantInfant, NewbornMaleNuclear ProteinsDNA-Binding ProteinsHomeodomain ProteinsNuclear ProteinsRAG-1 proteinRAG2 protein, humangeographic distributionincidenceprimary immunodeficiencyRAG1RAG2Slavic children
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.