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J-GLOBAL ID：202002291894914030 整理番号：20A1827209

Slavic諸国におけるc.256257delAA創始者変異体を含むRAG欠損患者82名の臨床および遺伝子スペクトル【JST・京大機械翻訳】

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

著者 (65件)：

Sharapova Svetlana O.

(Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus)

Skomska-Pawliszak Malgorzata

(Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland)

Rodina Yulia A.

(Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia)

Wolska-Kusnierz Beata

(Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland)

Dabrowska-Leonik Nel

(Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland)

Mikoluc Bozena

(Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, Bialystok, Poland)

Pashchenko Olga E.

(Immunology Department, Pirogov Russian National Research Medical University, Moscow, Russia)

Pasic Srdjan

(Pediatric Immunology, Medical Faculty, Mother and Child Health Institute, University of Belgrade, Belgrade, Serbia)

Freiberger Tomas

(Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia)

Freiberger Tomas

(Faculty of Medicine, Masaryk University, Brno, Czechia)

Milota Tomas

(Department of Immunology, University Hospital Motol, Prague, Czechia)

Milota Tomas

(Second Faculty of Medicine, Charles University, Prague, Czechia)

Formankova Renata

(Department of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czechia)

Formankova Renata

(Faculty of Medicine, Charles University, Prague, Czechia)

Szaflarska Anna

(Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland)

Siedlar Maciej

(Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland)

Siedlar Maciej

(Department of Clinical Immunology, University Children’s Hospital, Krakow, Poland)

Avcin Tadej

(University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia)

Avcin Tadej

(Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia)

Markelj Gasper

(University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia)

Markelj Gasper

(Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia)

Ciznar Peter

(Pediatric Department, Faculty of Medicine, Comenius University, Bratislava, Slovakia)

Kalwak Krzysztof

(Department of Pediatric Hematology/Oncology and BMT, Wroclaw Medical University, Wroclaw, Poland)

Koltan Sylwia

(Department of Pediatrics, Hematology and Oncology Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland)

Koltan Sylwia

(Nicolaus Copernicus University in Torun, Torun, Poland)

Jackowska Teresa

(Department of Pediatrics, Medical Center of Postgraduate Education, Warsaw, Poland)

Drabko Katarzyna

(Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland)

Gagro Alenka

(Department of Pediatrics, School of Medicine, Zagreb Children’s Hospital, University of Zagreb, Zagreb, Croatia)

Gagro Alenka

(Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia)

Pac Malgorzata

(Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland)

Naumova Elissaveta

(Department of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria)

Kandilarova Snezhina

(Department of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria)

Babol-Pokora Katarzyna

(Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland)

Varabyou Dzmitry S.

(Department of Geographical Ecology, Belarusian State University, Minsk, Belarus)

Barendregt Barbara H.

(Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands)

Raykina Elena V.

(Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia)

Varlamova Tatiana V.

(Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia)

Pavlova Anna V.

(Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia)

Grombirikova Hana

(Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia)

Grombirikova Hana

(Faculty of Medicine, Masaryk University, Brno, Czechia)

Debeljak Marusa

(University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia)

Debeljak Marusa

(Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia)

Mersiyanova Irina V.

(Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia)

Bondarenko Anastasiia V.

(Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine)

Chernyshova Liudmyla I.

(Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine)

Kostyuchenko Larysa V.

(Pediatric Department, West-Ukrainian Specialized Children’s Medical Center, Lviv, Ukraine)

Guseva Marina N.

(Consulting Center of Pediatric Medical Academy, St. Petersburg, Russia)

Rascon Jelena

(Center for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania)

Muleviciene Audrone

(Center for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania)

Preiksaitiene Egle

(Hematology, Oncology and Transfusion Medicine Center, Vilnius University, Vilnius, Lithuania)

Geier Christoph B.

(Immunology Outpatient Clinic, Vienna, Austria)

Leiss-Piller Alexander

(Immunology Outpatient Clinic, Vienna, Austria)

Yamazaki Yasuhiro

(Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States)

Kawai Tomoki

Walter Jolan E.

(University of South Florida at Johns Hopkins All Children’s Hospital, Saint Petersburg, FL, United States)

Walter Jolan E.

(Massachusetts General Hospital for Children, Boston, MA, United States)

Kondratenko Irina V.

(Department of Clinical Immunology, Russian Clinical Children’s Hospital by Pirogov Russian National Research Medical University, Moscow, Russia)

Sediva Anna

(Department of Immunology, University Hospital Motol, Prague, Czechia)

Sediva Anna

(Second Faculty of Medicine, Charles University, Prague, Czechia)

van der Burg Mirjam

(Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands)

van der Burg Mirjam

(Department of Pediatric, Laboratory for Pediatric Immunology, Willem Alexander Children’s Hospital, LUMC, Leiden, Netherlands)

Kuzmenko Natalia B.

(Department of Epidemiology and Monitoring of Primary Immunodeficiencies, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia)

Notarangelo Luigi D.

Bernatowska Ewa

(Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland)

Aleinikova Olga V.

(Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus)

資料名：

Frontiers in Immunology (Web) (Frontiers in Immunology (Web))

巻： 11 ページ： 900 発行年： 2020年
JST資料番号： U7074A ISSN： 1664-3224 資料種別：逐次刊行物 (A)
記事区分：原著論文発行国：スイス (CHE) 言語：英語 (EN)

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