Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor.

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作者： Dylan,Lawless ^[1] ; Hana Lango,Allen ^[2] ; James E D,Thaventhiran ^[3] ; Sarah,Goddard ^[4] ; Oliver S,Burren ^[5] ; Evie,Robson ^[6] ; NIHR BioResource–Rare Diseases Consortium ^[7] ; Daniel,Peckham ^[8] ; Kenneth G C,Smith ^[9] ; Sinisa,Savic ^[10]

作者单位： Global Health Institute, School of Life Sciences, Ecole Polytechnique Federale de Lausanne, Lausanne, Switzerland. ^[1] National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom; MRC Epidemiology Unit, Institute of Metabolic Science, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom. ^[2] Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom; MRC Toxicology Unit, School of Biological Sciences, University of Cambridge, Cambridge, United Kingdom. ^[3] University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, United Kingdom. ^[4] Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, United Kingdom. ^[5] Leeds Cystic Fibrosis Trust Strategic Research Centre, University of Leeds, Leeds, United Kingdom. ^[6] National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom. ^[7] Leeds Cystic Fibrosis Trust Strategic Research Centre, University of Leeds, Leeds, United Kingdom; Leeds Institute of Medical Research at St James's University Hospital, University of Leeds, Leeds, United Kingdom. ^[8] National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom; Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, United Kingdom; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, United Kingdom. ^[9] Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom; Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James's University Hospital, Leeds, United Kingdom. Electronic address: s.savic@leeds.ac.uk. ^[10]

关键词 Bronchiectasis CFTR cystic fibrosis genomics primary immunodeficiency

主题词人类(Humans);囊性纤维化跨膜传导调节因子(Cystic Fibrosis Transmembrane Conductance Regulator);患病率(Prevalence);突变(Mutation);支气管扩张症(Bronchiectasis);囊性纤维化(Cystic Fibrosis)

DOI 10.1016/j.jaci.2023.01.035

PMID 36828084

发布时间 2024-01-30

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