Whole-genome sequencing of a sporadic primary immunodeficiency cohort

Journal: Nature

Published: 2020-05-06

DOI: 10.1038/s41586-020-2265-1

Affiliations: 322

Authors: 635

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Institutions Share
NIHR BioResource, United Kingdom (UK) 0.07
Department of Haematology, University of Cambridge, United Kingdom (UK) 0.07
Great Ormond Street Hospital for Children NHS Trust, United Kingdom (UK) 0.05
Department of Medicine, University of Cambridge, United Kingdom (UK) 0.04
Addenbrooke's Hospital, United Kingdom (UK) 0.03
Department of Medicine (DOM), ICL, United Kingdom (UK) 0.02
Barts Health NHS Trust, United Kingdom (UK) 0.02
Oxford University Hospitals NHS Trust (OUH), United Kingdom (UK) 0.01
UCL Great Ormond Street Institute of Child Health (ICH), United Kingdom (UK) 0.01
Sheffield Teaching Hospitals NHS Foundation Trust, United Kingdom (UK) 0.01
Royal Free London NHS Foundation Trust, United Kingdom (UK) 0.01
Royal Brompton Hospital, United Kingdom (UK) 0.01
Cambridge Institute of Therapeutic Immunology and Infectious Diseases, University of Cambridge, United Kingdom (UK) 0.01
Hammersmith Hospital, Imperial College Healthcare NHS Trust, United Kingdom (UK) 0.01
University Hospital of Wales, United Kingdom (UK) 0.01
King's College Hospital NHS Foundation Trust, United Kingdom (UK) 0.01
The Newcastle Upon Tyne Hospitals NHS Foundation Trust (NUTH), United Kingdom (UK) 0.01
Papworth Hospital NHS Foundation Trust, United Kingdom (UK) 0.01
Department of Clinical Neurosciences, University of Cambridge, United Kingdom (UK) 0.01
VU University Medical Center (VUmc), Netherlands 0.01
Oxford Nuffield Department of Clinical Neurosciences (NDCN), United Kingdom (UK) 0.01
Leeds Teaching Hospitals NHS Trust (LTHT), United Kingdom (UK) 0.01
University College London Hospitals NHS Foundation Trust (UCLH), United Kingdom (UK) 0.01
University of Cambridge, United Kingdom (UK) 0.01
Salford Royal NHS Foundation Trust, United Kingdom (UK) 0.01
NHS Blood and Transplant (NHSBT), United Kingdom (UK) 0.01
NIHR Oxford Biomedical Research Centre (OxBRC), United Kingdom (UK) 0.01
Birmingham Heartlands Hospital, UHB, United Kingdom (UK) 0.01
UCL Centre for Nephrology, United Kingdom (UK) 0.01
National Heart and Lung Institute (NHLI), ICL, United Kingdom (UK) 0.01
King's College London (KCL), United Kingdom (UK) 0.01
Bristol Medical School, UoB, United Kingdom (UK) 0.01
Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK) 0.01
Institute of Cellular Medicine, Newcastle University, United Kingdom (UK) 0.01
Guy's and St Thomas' NHS Foundation Trust, United Kingdom (UK) 0.01
Maastricht University Medical Center+ (Maastricht UMC+), Netherlands 0.01
West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK) 0.01
Kennedy-Galton Centre (North West Thames Regional Genetics Service), LNWH, United Kingdom (UK) 0.01
Center for Molecular and Vascular Biology, KU Leuven, Belgium 0.01
Nottingham University Hospitals NHS Trust (NUH), United Kingdom (UK) 0.01
Royal Hospital for Children (Glasgow), United Kingdom (UK) 0.01
Golden Jubilee National Hospital, NHSGGC, United Kingdom (UK) 0.01
University Hospitals Birmingham NHS Foundation Trust (UHB), United Kingdom (UK) 0.01
UCL Institute of Immunity and Transplantation (IIT), United Kingdom (UK) 0.01
Guy's Hospital, Guy's and St Thomas' NHS Foundation Trust, United Kingdom (UK) 0.01
Oxford MRC Molecular Haematology Unit (MHU), United Kingdom (UK) 0.01
St Thomas' Hospital, Guy's and St Thomas' NHS Foundation Trust, United Kingdom (UK) 0.01
MRC Biostatistics Unit (BSU), University of Cambridge, United Kingdom (UK) 0.01
Gartnavel General Hospital, United Kingdom (UK) 0.01
Moorfields Eye Hospital NHS Foundation Trust, United Kingdom (UK) 0.01
Institute of Genetic Medicine (IGM), Newcastle University, United Kingdom (UK) 0.01
Cambridge University Hospitals NHS Foundation Trust, United Kingdom (UK) 0.01
Cambridge Institute for Medical Research (CIMR), University of Cambridge, United Kingdom (UK) 0
Academic Department of Medical Genetics, University of Cambridge, United Kingdom (UK) 0
Department of Infection, Immunity and Cardiovascular Disease, The University of Sheffield, United Kingdom (UK) 0
University Hospitals of North Midlands NHS Trust (UHNM NHS Trust), United Kingdom (UK) 0
Southampton General Hospital, University Hospital Southampton NHS Foundation Trust, United Kingdom (UK) 0
St George's University Hospitals NHS Foundation Trust, United Kingdom (UK) 0
Department of Public Health and Primary Care (DPHPC), University of Cambridge, United Kingdom (UK) 0
Churchill Hospital, United Kingdom (UK) 0
Oxford Division of Cardiovascular Medicine (CVM), United Kingdom (UK) 0
School of Life Course Sciences, KCL, United Kingdom (UK) 0
Clinical Genetics Service, Guy's and St Thomas' NHS Foundation Trust, United Kingdom (UK) 0
Centre for Haematology, ICL, United Kingdom (UK) 0
University of Giessen and Marburg Lung Center (UGMLC), Germany 0
Royal Victoria Infirmary (RVI), NUTH, United Kingdom (UK) 0
NIHR Cambridge Biomedical Research Centre (Cambridge BRC), United Kingdom (UK) 0
UCL Developmental Neurosciences Programme, United Kingdom (UK) 0
East Anglian Medical Genetics Service, Addenbrooke's Hospital, United Kingdom (UK) 0
University College London (UCL), United Kingdom (UK) 0
The Royal London Hospital, United Kingdom (UK) 0
Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, United Kingdom (UK) 0
Royal Manchester Children's Hospital, MFT, United Kingdom (UK) 0
UiO K.G. Jebsen Inflammation Research Centre, Norway 0
Manchester University NHS Foundation Trust (MFT), United Kingdom (UK) 0
Département de Génétique, AP-HP Hôpitaux Universitaires La Pitié-Salpêtrière - Charles-Foix, France 0
Royal Liverpool University Hospital, The Royal Liverpool and Broadgreen University Hospitals NHS Trust, United Kingdom (UK) 0
Leeds Children's Hospital, LTHT, United Kingdom (UK) 0
Queen Elizabeth University Hospital Glasgow, United Kingdom (UK) 0
Freeman Hospital, United Kingdom (UK) 0
Department of Paediatrics, University of Cambridge, United Kingdom (UK) 0
National Hospital for Neurology and Neurosurgery (NHNN), UCLH, United Kingdom (UK) 0
Hull Royal Infirmary, Hull and East Yorkshire Hospitals NHS Trust, United Kingdom (UK) 0
IRCCS Policlinico San Matteo, Italy 0
Royal Hallamshire Hospital, United Kingdom (UK) 0
Ludwig Boltzmann Institute Lung Vascular Research, Austria 0
Kent and Canterbury Hospital, East Kent Hospitals University NHS Foundation Trust, United Kingdom (UK) 0
Royal United Hospitals Bath NHS Trust, United Kingdom (UK) 0
Royal Devon and Exeter NHS Foundation Trust, United Kingdom (UK) 0
Glasgow Royal Infirmary (GRI), United Kingdom (UK) 0
Arthur Bloom Haemophilia Centre, University Hospital of Wales, United Kingdom (UK) 0
North East Thames Regional Genetics Service, GOSH, United Kingdom (UK) 0
Institute of Neuroscience and Psychology (INP), University of Glasgow, United Kingdom (UK) 0
University Hospital Southampton NHS Foundation Trust, United Kingdom (UK) 0
Aberdeen Royal Infirmary, NHS Grampian, United Kingdom (UK) 0
Wellcome Trust Genome Campus, United Kingdom (UK) 0
UCL Institute of Ophthalmology (IoO), United Kingdom (UK) 0
Department of Surgery and Cancer, ICL, United Kingdom (UK) 0
Sanquin Department of Blood Cell Research, Netherlands 0
Department of Clinical Biochemistry and Immunology, Addenbrooke’s Hospital, United Kingdom (UK) 0
MRC Institute of Genetics and Molecular Medicine (IGMM), United Kingdom (UK) 0
Lancashire Teaching Hospitals NHS Foundation Trust, United Kingdom (UK) 0
Epsom and St Helier University Hospitals NHS Trust, United Kingdom (UK) 0
UCL Department of Molecular Neuroscience, United Kingdom (UK) 0
JDRF/Wellcome Trust Diabetes and Inflammation Laboratory (JDRF/Wellcome Trust DIL), United Kingdom (UK) 0
Chelsea and Westminster Hospital NHS Foundation Trust, United Kingdom (UK) 0
Royal Surrey County Hospital NHS Trust, United Kingdom (UK) 0
Frimley Park Hospital, Frimley Health NHS Foundation Trust, United Kingdom (UK) 0
Hampshire Hospitals NHS Foundation Trust, United Kingdom (UK) 0
Unit Pulmonary Hypertension: Pathophysiology and Novel Therapies, France 0
Leicester Royal Infirmary, UHL, United Kingdom (UK) 0
Newcastle University, United Kingdom (UK) 0
Northern Genetics Service, NUTH, United Kingdom (UK) 0
CRUK Cambridge Centre, United Kingdom (UK) 0
Health Innovation Manchester, United Kingdom (UK) 0
Oxford Li Ka Shing Centre for Health Information and Discovery, United Kingdom (UK) 0
Emma Children’s Hospital, UvA, Netherlands 0
Department of Experimental Immunology (EXIM), UvA, Netherlands 0
MRC Mitochondrial Biology Unit (MBU), University of Cambridge, United Kingdom (UK) 0
Oxford Wellcome Trust Centre for Human Genetics, United Kingdom (UK) 0
Queen Mary University of London (QMUL), United Kingdom (UK) 0
Sheffield Children's NHS Foundation Trust, United Kingdom (UK) 0
Department of Internal Medicine, Med Uni Graz, Austria 0
Northwick Park Hospital, LNWH, United Kingdom (UK) 0
American Friends of Kaplan Medical Center (AFKMC), HUJI, Israel 0
Harvard Medical School (HMS), United States of America (USA) 0
Division of Genetics and Molecular Medicine (GMM), KCL, United Kingdom (UK) 0
Beth Israel Deaconess Medical Center (BIDMC), United States of America (USA) 0
Department of Molecular and Clinical Medicine (MKM), GU, Sweden 0
Aarhus University Hospital, Denmark 0
Birmingham Women's Hospital, Birmingham Women's and Children's NHS Foundation Trust, United Kingdom (UK) 0
Ninewells Hospital and Medical School, United Kingdom (UK) 0
Manchester Centre for Genomic Medicine (MCGM), United Kingdom (UK) 0
Saint Mary's Hospital, MFT, United Kingdom (UK) 0
Royal Sussex County Hospital, BSUH, United Kingdom (UK) 0
Sheffield Children’s Hospital, Sheffield Children's NHS Foundation Trust, United Kingdom (UK) 0
Institute of Cardiovascular Research (ICR2UL), RHUL, United Kingdom (UK) 0
University Hospital of Würzburg (UKW), JMU, Germany 0
Scunthorpe General Hospital, Northern Lincolnshire and Goole NHS Foundation Trust, United Kingdom (UK) 0
University Hospitals Bristol NHS Foundation Trust (UHBristol), United Kingdom (UK) 0
Princess Alexandra Hospital NHS Trust, United Kingdom (UK) 0
Molecular and Clinical Sciences Research Institute, SGUL, United Kingdom (UK) 0
Lister Hospital, East and North Herts NHS Trust, United Kingdom (UK) 0
Sandwell and West Birmingham Hospitals NHS Trust (SWBH), United Kingdom (UK) 0
University Hospital "Santa Maria della Misericordia", Italy 0
Institute of Immunology and Transfusion Medicine, University of Greifswald, Germany 0
Shaare Zedek Medical Center (SZMC), Israel 0
Department of Molecular Medicine, Sapienza University of Rome, Italy 0
School of Cellular and Molecular Medicine, UoB, United Kingdom (UK) 0
West Middlesex University Hospital, Chelsea and Westminster Hospital NHS Foundation Trust, United Kingdom (UK) 0
Oxford Medical Sciences Division (MSD), United Kingdom (UK) 0
Barnet Hospital, Royal Free London NHS Foundation Trust, United Kingdom (UK) 0
Belfast Health and Social Care Trust (BHSCT), United Kingdom (UK) 0
NIHR Leicester Respiratory Biomedical Research Unit (BRU), United Kingdom (UK) 0
Leeds General Infirmary, LTHT, United Kingdom (UK) 0
Ramón Sardá Mothers' and Children's Hospital, Argentina 0
Faculty of Health and Medical Sciences, UWA, Australia 0
Texas Children's Hospital, BCM, United States of America (USA) 0
St. James's Hospital (SJH), TCD, Ireland 0
Department of Infection, Immunity and Inflammation, University of Leicester, United Kingdom (UK) 0
Sunderland Royal Hospital, City Hospitals Sunderland NHS Foundation Trust, United Kingdom (UK) 0
University Hospitals of Leicester NHS Trust (UHL), United Kingdom (UK) 0
Royal Devon and Exeter Hospital, United Kingdom (UK) 0
Department of Pediatrics, BCM, United States of America (USA) 0
Gloucestershire Royal Hospital (GRH), GHNHSFT, United Kingdom (UK) 0
Blizard Institute, QMUL, United Kingdom (UK) 0
Plymouth Hospitals NHS Trust, United Kingdom (UK) 0
Warrington and Halton Hospitals NHS Foundation Trust, United Kingdom (UK) 0
Ege University Hospital, Turkey 0
University Hospitals Coventry and Warwickshire NHS Trust, United Kingdom (UK) 0
Institute for Clinical and Experimental Transfusion Medicine (IKET), Uni Tübingen, Germany 0
Colchester General Hospital, Colchester Hospital University NHS Foundation Trust, United Kingdom (UK) 0
Chapel Allerton Hospital, United Kingdom (UK) 0
Clinical Genetics Service, Liverpool Women's Hospital, United Kingdom (UK) 0
Nottingham Children's Hospital, NUH, United Kingdom (UK) 0
University Hospital Carl Gustav Carus Dresden, TU Dresden, Germany 0
Sanger Institute Human Genetics, United Kingdom (UK) 0
Department of Molecular Medicine, UNIPV, Italy 0
NIHR Newcastle Biomedical Research Centre, United Kingdom (UK) 0
Department of Internal Medicine, UvA, Netherlands 0
Charité Institute of Medical Genetics and Human Genetics, Germany 0
Institute of Infection and Immunity, Cardiff University, United Kingdom (UK) 0
Trinity College Dublin (TCD), Ireland 0
Genomics England Ltd., United Kingdom (UK) 0
Faculté de Médicine, Université Paris Saclay, France 0
Evelina London Children’s Hospital, Guy's and St Thomas' NHS Foundation Trust, United Kingdom (UK) 0
University of Paris-Sud (UPSud), France 0
Imperial College Healthcare NHS Trust, United Kingdom (UK) 0
Oslo University Hospital (OUS), Norway 0
Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), University of Leeds, United Kingdom (UK) 0
MRC Toxicology Unit, University of Cambridge, United Kingdom (UK) 0
NIHR Leeds Biomedical Research Centre, United Kingdom (UK) 0
Department of Allergy and Clinical Immunology, St James's University Hospital, United Kingdom (UK) 0
MRC London Institute of Medical Sciences (LMS), United Kingdom (UK) 0
Katharine Dormandy Haemophilia and Thrombosis Centre, Royal Free London NHS Foundation Trust, United Kingdom (UK) 0
UCL Genetics Institute (UGI), United Kingdom (UK) 0
Birmingham Chest Clinic, UHB, United Kingdom (UK) 0
Hôpital Saint-Louis, France 0
University of Paris, France 0
Hull York Medical School (HYMS), United Kingdom (UK) 0
Imperial College London (ICL), United Kingdom (UK) 0
MRC Clinical Sciences Centre (CSC), ICL, United Kingdom (UK) 0
Barts and The London School of Medicine and Dentistry (SMD), QMUL, United Kingdom (UK) 0
Queen’s Centre for Oncology and Haematology, Hull and East Yorkshire Hospitals NHS Trust, United Kingdom (UK) 0
Cardiff University, United Kingdom (UK) 0
Dalhousie University, Canada 0
Oxford Department of Paediatrics, United Kingdom (UK) 0
Oxford MRC Weatherall Institute of Molecular Medicine (WIMM), United Kingdom (UK) 0
Department of Internal Medicine, Utah, United States of America (USA) 0
IWK Health Centre, Canada 0
Eccles Institute of Human Genetics, Utah, United States of America (USA) 0
Bristol Royal Hospital for Children (BRHC), UHBristol, United Kingdom (UK) 0
North Bristol NHS Trust, United Kingdom (UK) 0
Faculty of Life Sciences and Medicine (LSM), KCL, United Kingdom (UK) 0
Epsom Hospital, Epsom and St Helier University Hospitals NHS Trust, United Kingdom (UK) 0
MRC Centre for Neuromuscular Diseases (London), United Kingdom (UK) 0
School of Life Sciences, University of Lincoln, United Kingdom (UK) 0
University of Leicester, United Kingdom (UK) 0
Division of Hematology, CHOP, United States of America (USA) 0
Institute of Cardiovascular and Medical Sciences (ICAMS), University of Glasgow, United Kingdom (UK) 0
Norfolk and Norwich University Hospitals NHS Foundation Trust, United Kingdom (UK) 0
Women's and Children's Hospital (WCH), SA Health, Australia 0
Robinson Research Institute (RRI), Adelaide Uni, Australia 0
Great North Children's Hospital (GNCH), NUTH, United Kingdom (UK) 0
Department of Pediatrics, Penn, United States of America (USA) 0
Faculty of Medicine, Soton, United Kingdom (UK) 0
Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, United Kingdom (UK) 0
UK Renal Registry (UKRR), United Kingdom (UK) 0
Normal and Pathologic Haematopoïesis, France 0
Oxford Nuffield Department of Women's and Reproductive Health, United Kingdom (UK) 0
Hôpital Armand-Trousseau, France 0
Salisbury District Hospital, Salisbury NHS Foundation Trust, United Kingdom (UK) 0
Graduate School of Engineering, Osaka University, Japan 0
NIH National Institute of Allergy and Infectious Diseases (NIAID), United States of America (USA) 0
BHF Cambridge Centre of Excellence (CRE), University of Cambridge, United Kingdom (UK) 0
Wellcome Trust Centre for Mitochondrial Research, Newcastle University, United Kingdom (UK) 0
Institute of Reproductive and Developmental Biology (IRDB), ICL, United Kingdom (UK) 0
School of Mathematics and Statistics, University of St Andrews, United Kingdom (UK) 0
John Walton Muscular Dystrophy Research Centre, United Kingdom (UK) 0
School of Medicine, University of St Andrews, United Kingdom (UK) 0
NIHR Maudsley Biomedical Research Centre (BRC), United Kingdom (UK) 0
Maudsley Hospital, SLaM, United Kingdom (UK) 0
MRC Centre for Social, Genetic and Developmental Psychiatry (SGDP), KCL, United Kingdom (UK) 0
Plateforme Technologique d'Innovation Biomédicale (PTIB), France 0
Institute of Clinical Molecular Biology (IKMB), UKSH Kiel, Germany 0
UCSF Department of Ophthalmology, United States of America (USA) 0
Electrophysiology and Heart Modeling Institute (LIRYC), France 0
UiO Institute of Clinical Medicine (Klinmed), Norway 0
UiO Research Institute for Internal Medicine (IMF), Norway 0
NIHR/Wellcome Trust Clinical Research Facility, MFT, United Kingdom (UK) 0
Hopital Xavier Arnozan, France 0
UiO Department of Rheumatology, Dermatology and Infectious Diseases, Norway 0
Division of Neuroscience and Experimental Psychology, UoM, United Kingdom (UK) 0
UCL/MRC Laboratory for Molecular Cell Biology (LMCB), United Kingdom (UK) 0
UCL Genetics and Genomic Medicine Programme, United Kingdom (UK) 0
Royal Brompton and Harefield NHS Foundation Trust, United Kingdom (UK) 0
Chelsea and Westminster Hospital, Chelsea and Westminster Hospital NHS Foundation Trust, United Kingdom (UK) 0
NIHR Moorfields Biomedical Research Centre (BRC), United Kingdom (UK) 0
Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), United Kingdom (UK) 0
Moorfields Eye Hospital, Moorfields Eye Hospital NHS Foundation Trust, United Kingdom (UK) 0
National Heart Research Institute Singapore (NHRIS), Singapore 0
MRC Epidemiology Unit, University of Cambridge, United Kingdom (UK) 0
Duke-NUS Cardiovascular and Metabolic Disorders (CVMD), Singapore 0
School of Paediatrics and Child Health (SPACH), UWA, Australia 0
Genetic Services of Western Australia, Australia 0
Western Australia Department of Health, Australia 0
Telethon Kids Institute, Australia 0
MRC-PHE Centre for Environment and Health, United Kingdom (UK) 0
Department of Cardiology, LNWH, United Kingdom (UK) 0
Department of Epidemiology and Biostatistics (EBS), ICL, United Kingdom (UK) 0
Lee Kong Chian School of Medicine, Singapore 0

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