换一批
换一批The Clinical and Genetic Spectrum of 82 Patients With <i>RAG</i> Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
作者：
Svetlana O,Sharapova [1]
;
Małgorzata,Skomska-Pawliszak [2]
;
Yulia A,Rodina [3]
;
Beata,Wolska-Kuśnierz [2]
;
Nel,Dabrowska-Leonik [2]
;
Bozena,Mikołuć [4]
;
Olga E,Pashchenko [5]
;
Srdjan,Pasic [6]
;
Tomáš,Freiberger [7]
;
Tomáš,Milota [8]
;
Renata,Formánková [9]
;
Anna,Szaflarska [10]
;
Maciej,Siedlar [11]
;
Tadej,Avčin [12]
;
Gašper,Markelj [12]
;
Peter,Ciznar [13]
;
Krzysztof,Kalwak [14]
;
Sylwia,Kołtan [15]
;
Teresa,Jackowska [16]
;
Katarzyna,Drabko [17]
;
Alenka,Gagro [18]
;
Małgorzata,Pac [2]
;
Elissaveta,Naumova [19]
;
Snezhina,Kandilarova [19]
;
Katarzyna,Babol-Pokora [20]
;
Dzmitry S,Varabyou [21]
;
Barbara H,Barendregt [22]
;
Elena V,Raykina [23]
;
Tatiana V,Varlamova [23]
;
Anna V,Pavlova [23]
;
Hana,Grombirikova [7]
;
Maruša,Debeljak [12]
;
Irina V,Mersiyanova [23]
;
Anastasiia V,Bondarenko [24]
;
Liudmyla I,Chernyshova [24]
;
Larysa V,Kostyuchenko [25]
;
Marina N,Guseva [26]
;
Jelena,Rascon [27]
;
Audrone,Muleviciene [27]
;
Egle,Preiksaitiene [28]
;
Christoph B,Geier [29]
;
Alexander,Leiss-Piller [29]
;
Yasuhiro,Yamazaki [30]
;
Tomoki,Kawai [30]
;
Jolan E,Walter [31]
;
Irina V,Kondratenko [32]
;
Anna,Šedivá [8]
;
Mirjam,van der Burg [33]
;
Natalia B,Kuzmenko [34]
;
Luigi D,Notarangelo [30]
;
Ewa,Bernatowska [2]
;
Olga V,Aleinikova [1]
作者单位：
Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus.
[1]
Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
[2]
Department of Immunology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
[3]
Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases, Medical University of Bialystok, Bialystok, Poland.
[4]
Immunology Department, Pirogov Russian National Research Medical University, Moscow, Russia.
[5]
Pediatric Immunology, Medical Faculty, Mother and Child Health Institute, University of Belgrade, Belgrade, Serbia.
[6]
Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia.;Faculty of Medicine, Masaryk University, Brno, Czechia.
[7]
Department of Immunology, University Hospital Motol, Prague, Czechia.;Second Faculty of Medicine, Charles University, Prague, Czechia.
[8]
Department of Pediatric Hematology and Oncology, University Hospital Motol, Prague, Czechia.;Faculty of Medicine, Charles University, Prague, Czechia.
[9]
Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.
[10]
Department of Clinical Immunology, Institute of Pediatrics, Jagiellonian University Medical College, Krakow, Poland.;Department of Clinical Immunology, University Children's Hospital, Krakow, Poland.
[11]
University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.;Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
[12]
Pediatric Department, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
[13]
Department of Pediatric Hematology/Oncology and BMT, Wroclaw Medical University, Wroclaw, Poland.
[14]
Department of Pediatrics, Hematology and Oncology Collegium Medicum in Bydgoszcz, Bydgoszcz, Poland.;Nicolaus Copernicus University in Torun, Torun, Poland.
[15]
Department of Pediatrics, Medical Center of Postgraduate Education, Warsaw, Poland.
[16]
Department of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, Lublin, Poland.
[17]
Department of Pediatrics, School of Medicine, Zagreb Children's Hospital, University of Zagreb, Zagreb, Croatia.;Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia.
[18]
Department of Clinical Immunology, University Hospital Alexandrovska, Sofia, Bulgaria.
[19]
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.
[20]
Department of Geographical Ecology, Belarusian State University, Minsk, Belarus.
[21]
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.
[22]
Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
[23]
Department of Pediatric Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy for Postgraduate Education, Kiev, Ukraine.
[24]
Pediatric Department, West-Ukrainian Specialized Children's Medical Center, Lviv, Ukraine.
[25]
Consulting Center of Pediatric Medical Academy, St. Petersburg, Russia.
[26]
Center for Pediatric Oncology and Hematology, Vilnius University, Vilnius, Lithuania.
[27]
Hematology, Oncology and Transfusion Medicine Center, Vilnius University, Vilnius, Lithuania.
[28]
Immunology Outpatient Clinic, Vienna, Austria.
[29]
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.
[30]
University of South Florida at Johns Hopkins All Children's Hospital, Saint Petersburg, FL, United States.;Massachusetts General Hospital for Children, Boston, MA, United States.
[31]
Department of Clinical Immunology, Russian Clinical Children's Hospital by Pirogov Russian National Research Medical University, Moscow, Russia.
[32]
Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.;Department of Pediatric, Laboratory for Pediatric Immunology, Willem Alexander Children's Hospital, LUMC, Leiden, Netherlands.
[33]
Department of Epidemiology and Monitoring of Primary Immunodeficiencies, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia.
[34]
主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);DNA结合蛋白质类(DNA-Binding Proteins);女(雌)性(Female);基因频率(Gene Frequency);基因型(Genotype);同源盒结构域蛋白质类(Homeodomain Proteins);人类(Humans);免疫缺陷综合征(Immunologic Deficiency Syndromes);发病率(Incidence);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);核蛋白质类(Nuclear Proteins);表型(Phenotype);多态现象, 遗传(Polymorphism, Genetic);回顾性研究(Retrospective Studies);序列缺失(Sequence Deletion);治疗结果(Treatment Outcome);青年人(Young Adult)
DOI
10.3389/fimmu.2020.00900
PMID
32655540
发布时间
2024-07-30
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