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Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders
Authors:James Slack  Michael H. Albert  Dmitry Balashov  Bernd H. Belohradsky  Alice Bertaina  Jack Bleesing  Claire Booth  Jochen Buechner  Rebecca H. Buckley  Marie Ouachée-Chardin  Elena Deripapa  Katarzyna Drabko  Mary Eapen  Tobias Feuchtinger  Andrea Finocchi  H. Bobby Gaspar  Sujal Ghosh  Alfred Gillio  Andrew R. Gennery
Affiliation:1. Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;2. Dr. von Hauner University Children''s Hospital, Ludwig-Maximilians-Universität, Munich, Germany;3. Immunology and Hematopoietic Stem Cell Transplantation Department, Federal Research Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia;4. Stem Cell Transplant Unit, Department of Hematology and Oncology, Ospedale Pediatrico Bambino Gesù, Rome, Italy;5. Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children''s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio;6. Infection, Immunity, Inflammation, Molecular and Cellular Immunology Section, UCL Great Ormond Street Institute of Child Health, London, United Kingdom;g. Department of Pediatric Hematology and Oncology, Oslo University Hospital, Oslo, Norway;h. Duke University School of Medicine, Departments of Pediatrics and Immunology, Duke University Medical Center, Durham, NC;i. Paediatric BMT Unit, Robert Debre Hospital, Paris, France;j. Department of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Medical University of Lublin, Lublin, Poland;k. Center for International Blood and Marrow Transplant Research, Division of Hematology/Oncology, Department of Medicine, Medical College of Wisconsin, Milwaukee, Wis;l. Department of Haematology and Oncology, University Children''s Hospital Tübingen, Tübingen, Germany;m. Division of Pediatric Stem Cell Therapy, Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Düsseldorf, Düsseldorf, Germany;n. Joseph M. Sanzari Children''s Hospital, Hackensack University Medical Center, Hackensack, NJ;o. Immunodeficiencies, Hematology & Oncology Unit, Pediatrics, Hospital 12 Octubre, and Universidad Complutense, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain;p. Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada;q. Division of Stem Cell Transplantation, University Children''s Hospital Zürich, Zürich, Switzerland;r. BørneUngeKlinikken, Copenhagen, Denmark;s. Paediatric Research Center, University Hospital of Tampere, Tampere, Finland;t. Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan;u. Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan;v. Department of Pediatric Hematology, Oncology and BMT, Wroclaw Medical University, Wroclaw, Poland;w. Department of Dermatology, Wakayama Medical University, Wakayama, Japan;ii. Department of Hematology and Oncology, Wakayama Medical University, Wakayama, Japan;x. Bahcesehir University Faculty of Medicine, Göztepe Medicalpark Hospital Pediatric Stem Cell Transplantation Unit, Istanbul, Turkey;y. Hirszfeld Institute of Immunology and Experimental Therapy, Polish Academy of Sciences / Lower Silesian Center for Cellular Transplantation, Wroc?aw, Poland;z. French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France;11. Immuno-Hematology Unit, Necker Children''s Hospital, Assistance Publique Hôpitaux de Paris, Paris, France;22. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan;33. Mother and Child Health Institute, Medical Faculty, University of Belgrade, Belgrade, Serbia;44. Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany;55. Michael Cuccione Childhood Cancer Research Program, BC Children''s Hospital and Child and Family Research Institute, Vancouver, British Columbia, Canada;66. Department of Oncology, Children''s Hospital at Westmead, Westmead, Australia;gg. Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;hh. Department of Pediatric Hematology Oncology, Hannover Medical, Hannover, Germany;jj. Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Helsinki University Hospital, Helsinki, Finland;kk. Paediatric Haematology & Oncology, Kinderklinik der Technische Universität München, Krankenhaus München-Schwabing, Munich, Germany;ll. Department of Immunology, Children''s Memorial Health Institute, Warsaw, Poland;mm. Allergy Immunology and Blood and Marrow Transplant Division, University of California San Francisco Benioff Children''s Hospital, San Francisco, Calif;nn. Department of Systems Medicine, University of Rome “Tor Vergata”, Unit of Immune and Infectious Diseases, Children''s Hospital Bambino Gesù, Rome, Itlay;oo. Duke University School of Medicine, Pediatric Blood and Marrow Transplant Program, Duke University Medical Center, Durham, NC
Abstract:
Keywords:Ataxia-telangiectasia  Cernunnos-XLF deficiency  DNA repair disorders  DNA ligase IV deficiency  hematopoietic stem cell transplantation  Nijmegen breakage syndrome  aGvHD  Acute graft-versus-host disease  AT  Ataxia-telangiectasia  ATG  Anti-thymocyte globulin  ATM  Ataxia-telangiectasia mutated  cGvHD  Chronic graft-versus-host disease  Cernunnos-XLF  Cernunnos–XRCC4-like factor  DNA-dsb  DNA double-strand break  GvHD  Graft-versus-host disease  HCT  Hematopoietic cell transplantation  LIG4  DNA ligase IV deficiency  MAC  Myeloablative conditioning  NBS  Nijmegen breakage syndrome  NHEJ  Nonhomologous end-joining  NHEJ1  Nonhomologous end-joining factor 1  NK  Natural killer  PTLD  Posttransplantation lymphoproliferative disorder  RAG  Recombination-activating gene  RIC  Reduced-intensity conditioning  SCID  Severe combined immunodeficiency
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