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Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.

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第一作者: Caspar I,van der Made
第一单位: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.
作者单位: Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. [1] Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. [2] Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK. [3] Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, the Netherlands. [4] Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK; Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. [5] Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. [6] Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. [7] Laboratory of Cancer Genetics and Tumor Biology, Research Unit of Translational Medicine and Biocenter Oulu, University of Oulu, Oulu, Finland. [8] Maastricht University Medical Centre MUMC+, Department of Clinical Genetics, Maastricht, the Netherlands; GROW School for Oncology and Developmental Biology, Department of Genetics and Cell Biology, Maastricht, the Netherlands. [9] Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands. [10] Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. [11] MRC Centre for Medical Mycology, University of Exeter, Exeter, UK; Department of Paediatric Infectious Diseases, Great Ormond Street Hospital, London, UK. [12] Department of Dermatology, Radboud University Medical Center, Nijmegen, the Netherlands. [13] Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. [14] Paediatric Immunology and Infectious Diseases, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. [15] Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel. [16] Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel. [17] The Wohl Institute for Translational Medicine and Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel. [18] Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands. [19] Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands. [20] Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Centre and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. Electronic address: alexander.hoischen@radboudumc.nl. [21]
DOI 10.1016/j.ajhg.2024.02.013
PMID 38503300
发布时间 2024-10-05
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American journal of human genetics

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