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TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.
Fejtkova, Martina; Sukova, Martina; Hlozkova, Katerina; Skvarova Kramarzova, Karolina; Rackova, Marketa; Jakubec, David; Bakardjieva, Marina; Bloomfield, Marketa; Klocperk, Adam; Parackova, Zuzana; Sediva, Anna; Aluri, Jahnavi; Novakova, Michaela; Kalina, Tomas; Fronkova, Eva; Hrusak, Ondrej; Malcova, Hana; Sedlacek, Petr; Liba, Zuzana; Kudr, Martin; Stary, Jan; Cooper, Megan A; Svaton, Michael; Kanderova, Veronika.
Affiliation
  • Fejtkova M; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Sukova M; Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Hlozkova K; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Skvarova Kramarzova K; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Rackova M; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Jakubec D; Bioinformatics Group, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.
  • Bakardjieva M; Department of Software Engineering, Faculty of Mathematics and Physics, Charles University, Prague, Czech Republic.
  • Bloomfield M; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Klocperk A; Department of Paediatrics, First Faculty of Medicine, Charles University and Thomayer University Hospital, Prague, Czech Republic.
  • Parackova Z; Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Sediva A; Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Aluri J; Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Novakova M; Department of Immunology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Kalina T; Division of Rheumatology/Immunology, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Fronkova E; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Hrusak O; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Malcova H; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Sedlacek P; CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Liba Z; Department of Paediatric and Adult Rheumatology, University Hospital Motol, Prague, Czech Republic.
  • Kudr M; Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Stary J; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Cooper MA; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Svaton M; Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Kanderova V; Division of Rheumatology/Immunology, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.
Am J Hematol ; 97(3): 338-351, 2022 03 01.
Article in En | MEDLINE | ID: mdl-34981838
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Toll-Like Receptor 7 / Toll-Like Receptor 8 / Anemia, Hemolytic, Autoimmune / Mutation Type of study: Etiology_studies Limits: Female / Humans / Male Language: En Journal: Am J Hematol Year: 2022 Type: Article Affiliation country: Czech Republic
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Toll-Like Receptor 7 / Toll-Like Receptor 8 / Anemia, Hemolytic, Autoimmune / Mutation Type of study: Etiology_studies Limits: Female / Humans / Male Language: En Journal: Am J Hematol Year: 2022 Type: Article Affiliation country: Czech Republic