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

Frontiers in Immunology - Tập 11
Svetlana O. Sharapova1, Małgorzata Skomska-Pawliszak2, Yulia Rodina3, Beata Wolska‐Kuśnierz2, Nel Dąbrowska-Leonik2, Bożena Mikołuć4, Olga Pashchenko5, Srdjan Pašić6, Tomáš Freiberger7,8, Tomáš Milota9,10, Renata Formánková11,12, Anna Szaflarska13, Maciej Siedlar13,14, Tadej Avčin15,16, Gašper Markelj15,16, Peter Čižnár17, Krzysztof Kałwak18, Sylwia Kołtan19,20, Teresa Jackowska21, Katarzyna Drabko22, Alenka Gagro23,24, Małgorzata Pac2, Elissaveta Naumova25, Snezhina Mihailova Kandilarova25, Katarzyna Bąbol‐Pokora26, Dzmitry S. Varabyou27, Barbara H. Barendregt28, Е. V. Raykina29, Т. В. Варламова29, Anna Pavlova29, Hana Grombiříková7,8, Maruša Debeljak15,16, Irina Mersiyanova29, Анастасія Бондаренко30, Л.И. Чернышова30, Larysa Kostyuchenko31, М. Н. Гусева32, Jelena Rascon33, Audronė Mulevičienė33, Eglė Preikšaitienė34, Christoph B. Geier35, Alexander Leiss-Piller35, Yasuhiro Yamazaki36, Tomoki Kawai36, Jolán E. Walter37,38, Irina Kondratenko39, Anna Šedivá9,10, Mirjam van der Burg28,40, N. B. Kuzmenko41, Luigi D. Notarangelo36, Ewa Bernatowska2, Olga Aleinikova1
1Research department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk region, Belarus
2Department of Immunology, Children’s Memorial Health Institute, Warsaw, Poland
3Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
4Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, Bialystok, Poland
5Immunology Department, Pirogov Russian National Research Medical University, Moscow, Russia
6Pediatric Immunology, Medical Faculty, Mother and Child Health Institute, University of Belgrade, Belgrade, Serbia
7Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia
8Faculty of Medicine, Masaryk University, Brno, Czechia
9Department of Immunology, University Hospital Motol, Prague, Czechia
10Second Faculty of Medicine, Charles University Prague, Czechia
11Department of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czechia
12Faculty of Medicine, Charles University, Prague, Czechia
13Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland
14Department of Clinical Immunology, University Children’s Hospital, Krakow, Poland
15Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
16University Children’s Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
17Pediatric Department, Faculty of Medicine, Comenius University, Bratislava, Slovakia
18Department of Pediatric Hematology/Oncology and BMT, Wroclaw Medical University, Wroclaw, Poland
19Department of Pediatrics, Hematology and Oncology Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland
20Nicolaus Copernicus University in Torun, Torun, Poland
21Department of Pediatrics, Medical Center of Postgraduate Education, Warsaw, Poland
22Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland
23Department of Pediatrics, School of Medicine, Zagreb Children's Hospital, University of Zagreb, Zagreb, Croatia
24Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
25Department of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria
26Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland
27Department of Geographical Ecology, Belarusian State University, Minsk, Belarus
28Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
29Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
30Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine
31Pediatric Department, West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine
32Consulting Center of Pediatric Medical Academy, St. Petersburg, Russia
33Center for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania
34Hematology, Oncology and Transfusion Medicine Center, Vilnius University, Vilnius, Lithuania
35Immunology Outpatient Clinic, Vienna, Austria
36Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States
37Massachusetts General Hospital for Children, Boston, MA, United States
38University of South Florida at Johns Hopkins All Children's Hospital, Saint Petersburg, FL, United States
39Department of Clinical Immunology, Russian Clinical Children's Hospital by Pirogov Russian National Research Medical University, Moscow, Russia
40Department of Pediatric, Laboratory for Pediatric Immunology, Willem Alexander Children's Hospital, LUMC, Leiden, Netherlands
41Department of Epidemiology and Monitoring of Primary Immunodeficiencies, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

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Frontiers in Immunology

Tập 11

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