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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.

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第一作者: Bergithe E,Oftedal
第一单位: Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway.
作者单位: Department of Clinical Science, University of Bergen and Department of Medicine, Haukeland University Hospital, Bergen, Norway. [1] Department of Clinical Immunology, Odense University Hospital, Odense, Denmark. [2] Marmara University, Faculty of Medicine, Pediatric Allergy and Immunology, Istanbul, Turkey.;Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. [3] Center for Individualized Medicine, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. [4] Department of Infectious Diseases, Odense University Hospital, Odense, Denmark. [5] Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. [6] Invitae, San Francisco, CA, USA. [7] Mayo Clinic, Department of Quantitative Health Sciences, Rochester, MN, USA. [8] Laboratory of Clinical Immunology & Microbiology, National Institute of Allergy & Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. [9] Department of Pediatrics, Division of Pediatric Endocrinology, Medical School, University of Patras, Rion, Greece. [10] Pediatric Hematology and Oncology Department, Hospital Álvaro Cunqueiro, Vigo, Spain. [11] Unidad de Inmunodeficiencias, Pediatría, Instituto de Investigación Hospital 12 de Octubre, Facultad de Medicina, Universidad Complutense, Madrid, Spain. [12] Mid-Atlantic Permanente Medical Group, Kaiser Permanente MidAtlantic, Rockville, MD, USA. [13] Division of Allergy & Clinical Immunology, National Jewish Health, Denver, CO, USA. [14] Department of Pediatrics, University Hospital Leuven, Laboratory for Inborn Errors of Immunity, Department of Microbiology Immunology and Transplantation, KU Leuven, Leuven, Belgium. [15]
DOI 10.1016/j.isci.2023.106818
PMID 37235056
发布时间 2023-05-29
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2023年26卷6期

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