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The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Sharapova, Svetlana O; Skomska-Pawliszak, Malgorzata; Rodina, Yulia A; Wolska-Kusnierz, Beata; Dabrowska-Leonik, Nel; Mikoluc, Bozena; Pashchenko, Olga E; Pasic, Srdjan; Freiberger, Tomás; Milota, Tomás; Formánková, Renata; Szaflarska, Anna; Siedlar, Maciej; Avcin, Tadej; Markelj, Gasper; Ciznar, Peter; Kalwak, Krzysztof; Koltan, Sylwia; Jackowska, Teresa; Drabko, Katarzyna; Gagro, Alenka; Pac, Malgorzata; Naumova, Elissaveta; Kandilarova, Snezhina; Babol-Pokora, Katarzyna; Varabyou, Dzmitry S; Barendregt, Barbara H; Raykina, Elena V; Varlamova, Tatiana V; Pavlova, Anna V; Grombirikova, Hana; Debeljak, Marusa; Mersiyanova, Irina V; Bondarenko, Anastasiia V; Chernyshova, Liudmyla I; Kostyuchenko, Larysa V; Guseva, Marina N; Rascon, Jelena; Muleviciene, Audrone; Preiksaitiene, Egle; Geier, Christoph B; Leiss-Piller, Alexander; Yamazaki, Yasuhiro; Kawai, Tomoki; Walter, Jolan E; Kondratenko, Irina V; Sedivá, Anna; van der Burg, Mirjam; Kuzmenko, Natalia B; Notarangelo, Luigi D.
Afiliação
  • Sharapova SO; Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus.
  • Skomska-Pawliszak M; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
  • Rodina YA; Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
  • Wolska-Kusnierz B; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
  • Dabrowska-Leonik N; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
  • Mikoluc B; Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, Bialystok, Poland.
  • Pashchenko OE; Immunology Department, Pirogov Russian National Research Medical University, Moscow, Russia.
  • Pasic S; Pediatric Immunology, Medical Faculty, Mother and Child Health Institute, University of Belgrade, Belgrade, Serbia.
  • Freiberger T; Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia.
  • Milota T; Faculty of Medicine, Masaryk University, Brno, Czechia.
  • Formánková R; Department of Immunology, University Hospital Motol, Prague, Czechia.
  • Szaflarska A; Second Faculty of Medicine, Charles University, Prague, Czechia.
  • Siedlar M; Department of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czechia.
  • Avcin T; Faculty of Medicine, Charles University, Prague, Czechia.
  • Markelj G; Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.
  • Ciznar P; Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.
  • Kalwak K; Department of Clinical Immunology, University Children's Hospital, Krakow, Poland.
  • Koltan S; University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Jackowska T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
  • Drabko K; University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Gagro A; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
  • Pac M; Pediatric Department, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
  • Naumova E; Department of Pediatric Hematology/Oncology and BMT, Wroclaw Medical University, Wroclaw, Poland.
  • Kandilarova S; Department of Pediatrics, Hematology and Oncology Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.
  • Babol-Pokora K; Nicolaus Copernicus University in Torun, Torun, Poland.
  • Varabyou DS; Department of Pediatrics, Medical Center of Postgraduate Education, Warsaw, Poland.
  • Barendregt BH; Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.
  • Raykina EV; Department of Pediatrics, School of Medicine, Zagreb Children's Hospital, University of Zagreb, Zagreb, Croatia.
  • Varlamova TV; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia.
  • Pavlova AV; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
  • Grombirikova H; Department of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria.
  • Debeljak M; Department of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria.
  • Mersiyanova IV; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
  • Bondarenko AV; Department of Geographical Ecology, Belarusian State University, Minsk, Belarus.
  • Chernyshova LI; Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
  • Kostyuchenko LV; Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
  • Guseva MN; Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
  • Rascon J; Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
  • Muleviciene A; Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia.
  • Preiksaitiene E; Faculty of Medicine, Masaryk University, Brno, Czechia.
  • Geier CB; University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Leiss-Piller A; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
  • Yamazaki Y; Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
  • Kawai T; Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine.
  • Walter JE; Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine.
  • Kondratenko IV; Pediatric Department, West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine.
  • Sedivá A; Consulting Center of Pediatric Medical Academy, St. Petersburg, Russia.
  • van der Burg M; Center for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania.
  • Kuzmenko NB; Center for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania.
  • Notarangelo LD; Hematology, Oncology and Transfusion Medicine Center, Vilnius University, Vilnius, Lithuania.
Front Immunol ; 11: 900, 2020.
Article em En | MEDLINE | ID: mdl-32655540
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 1_ASSA2030 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Deleção de Sequência / Proteínas de Homeodomínio / População Branca / Proteínas de Ligação a DNA / Genótipo / Síndromes de Imunodeficiência Tipo de estudo: Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Front Immunol Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 1_ASSA2030 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Deleção de Sequência / Proteínas de Homeodomínio / População Branca / Proteínas de Ligação a DNA / Genótipo / Síndromes de Imunodeficiência Tipo de estudo: Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Front Immunol Ano de publicação: 2020 Tipo de documento: Article