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Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

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作者单位: Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK. jedt2@cam.ac.uk. [1] Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK. jedt2@cam.ac.uk. [2] Medical Research Council Toxicology Unit, School of Biological Sciences, University of Cambridge, Cambridge, UK. jedt2@cam.ac.uk. [3] Department of Haematology, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK. [4] NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK. [5] NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK. [6] Medical Research Council Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK. [7] Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK. [8] Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK. [9] Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK. [10] Molecular Development of the Immune System Section, Laboratory of Immune System Biology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA. [11] Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Cambridge, UK. [12] UCL Great Ormond Street Institute of Child Health, London, UK. [13] Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. [14] Department of Immunology, Queen Elizabeth University Hospital, Glasgow, UK. [15] Gartnavel General Hospital, NHS Greater Glasgow and Clyde, Glasgow, UK. [16] Sheffield Teaching Hospitals NHS Foundation Trust, Sheffield, UK. [17] Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield, Sheffield, UK. [18] East Yorkshire Regional Adult Immunology and Allergy Unit, Hull Royal Infirmary, Hull and East Yorkshire Hospitals NHS Trust, Hull, UK. [19] Royal Papworth Hospital NHS Foundation Trust, Cambridge, UK. [20] Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam, The Netherlands. [21] Department of Experimental Immunology, Amsterdam University Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands. [22] Institute of Immunity and Transplantation, University College London, London, UK. [23] Department of Immunology, Royal Free London NHS Foundation Trust, London, UK. [24] Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [25] School of Mathematics and Statistics, University of St Andrews, St Andrews, UK. [26] School of Medicine, University of St Andrews, St Andrews, UK. [27] K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Oslo University Hospital, Oslo, Norway. [28] Department of Transplantation, Institute of Clinical Medicine, University of Oslo, Oslo University Hospital, Oslo, Norway. [29] Institute of Clinical Molecular Biology, Christian Albrechts University of Kiel, Kiel, Germany. [30] Section of Clinical Immunology and Infectious Diseases, Department of Rheumatology, Dermatology and Infectious Diseases, Oslo University Hospital, Oslo, Norway. [31] Research Institute of Internal Medicine, Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Oslo, Norway. [32] JDRF/Wellcome Diabetes and Inflammation Laboratory, Wellcome Centre for Human Genetics, Nuffield Department of Medicine, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK. [33] Department of Clinical Biochemistry and Immunology, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, UK. [34] St James's Hospital, Dublin, Ireland. [35] Trinity College Dublin, Dublin, Ireland. [36] Salford Royal NHS Foundation Trust, Salford, UK. [37] Department of Medicine, Imperial College London, London, UK. [38] Barts Health NHS Foundation Trust, London, UK. [39] West Midlands Immunodeficiency Centre, University Hospitals Birmingham, Birmingham, UK. [40] Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. [41] University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK. [42] Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, UK. [43] Department of Pediatric Immunology, University Hospital Carl Gustav Carus, Dresden, Germany. [44] Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany. [45] Department of Human Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK. [46] Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK. [47] The NIHR Leeds Biomedical Research Centre, Leeds, UK. [48] Leeds Institute of Rheumatic and Musculoskeletal Medicine, Leeds, UK. [49] Department of Blood Cell Research, Sanquin, Amsterdam, The Netherlands. [50] Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, UK. [51] Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK. kgcs2@cam.ac.uk. [52] Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK. kgcs2@cam.ac.uk. [53]
DOI 10.1038/s41586-020-2265-1
PMID 32499645
发布时间 2024-03-13
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