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Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

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作者单位: Cambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK. [1] 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. [2] Harvard Medical School, Boston, MA. [3] Institute of Cellular Medicine, Newcastle University, Newcastle, UK. [4] Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany. [5] University of Bordeaux, Maladies Rares: Génétique et Métabolisme Institut National de la Santé et de la Recherche Médicale U1211, Centre Hospitalier Universitaire de Bordeaux, Service de Génétique Médicale, Bordeaux, France. [6] Molecular Immunity Unit, Department of Medicine, Medical Research Council Laboratory of Molecular Biology, University of Cambridge, Cambridge, UK. [7] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. [8] Birmingham Children's Hospital, Birmingham, UK. [9] Department of Clinical Biochemistry and Immunology, Cambridge University Hospital, Cambridge, UK. [10] Starship Children's Hospital, Auckland, New Zealand. [11] Department of Pathology, Centre Hospitalier Universitaire Bordeaux, Bordeaux, France. [12] Immune Deficiency Genetics Section, Laboratory of Clinical Immunology and Microbiology and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD. [13] Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. [14] Institute of Cellular Medicine, Newcastle University, Newcastle, UK sophie.hambleton@newcastle.ac.uk. [15] Great North Children's Hospital, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle, UK. [16] Cambridge Institute of Therapeutic Immunology and Infectious Disease, and the Department of Medicine, University of Cambridge, Cambridge, UK kgcs2@cam.ac.uk. [17] 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 MLENARDO@niaid.nih.gov. [18]
DOI 10.1084/jem.20182304
PMID 31040185
发布时间 2021-10-06
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The Journal of experimental medicine

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