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Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.

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第一作者: Anne,Rensing-Ehl
第一单位: Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: anne.rensing-ehl@uniklinik-freiburg.de.
作者单位: Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address: anne.rensing-ehl@uniklinik-freiburg.de. [1] Institute for Transfusion Medicine, University of Ulm, Ulm, Germany. [2] Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany. [3] Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; Syndena GmbH, Connect to cure, Innsbruck, Austria. [4] Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria. [5] Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; Tyrolean Cancer Research Institute, Innsbruck, Austria. [6] Paediatric Immunology, Great North Children's Hospital, Newcastle University, Newcastle upon Tyne, United Kingdom. [7] Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Mathildenstr. 1, Freiburg, Germany. [8] Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Faculty of Biology, University of Freiburg, Schaenzlestrasse 1, Freiburg, Germany. [9] Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. [10] Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France. [11] Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Paediatric Immunology, Great North Children's Hospital, Newcastle University, Newcastle upon Tyne, United Kingdom. [12] Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany. [13] Children's Hospital, Faculty of Medicine, University of Leipzig, Leipzig, Germany. [14] Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Clinic for Rheumatolgy and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. [15] Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Clinic for Rheumatolgy and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; DZIF - German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany; CIBSS - Centre for Integrative Biological Signalling Studies, Albert-Ludwigs University, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany. [16] Center for Pediatrics and Adolescent Medicine, Department of Pediatric Oncology, Hematology and Immunodeficiencies, University Hospital Giessen, Giessen, Germany. [17] Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany. [18] Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. [19] Department of Pediatric Rheumatology and Immunology, University Hospital Münster, Münster, Germany. [20] Department of Internal Medicine, Kliniken Ostalb, Stauferklinikum, Mutlangen, Germany. [21] Charité Universitätsmedizin Berlin, Department of Pediatric Oncology/Hematology, Augustenburger Pl. 1, Berlin, Germany. [22] Department of Paediatric Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. [23] Department of Paediatric Immunology/ID, Children's Health Ireland (CHI) at Crumlin, Dublin; University of Dublin, Trinity College, Dublin, Ireland. [24] Department of Pediatrics, University Medical Center, UKSH Campus Kiel, Kiel, Germany. [25] Department of Pediatric Oncology-Hematology-Immunology, Children's Hospital Lucerne, Lucerne, Switzerland. [26] Institute for Transfusion Medicine, University of Ulm, Ulm, Germany; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany. [27]
DOI 10.1016/j.jaci.2023.11.006
PMID 37979702
发布时间 2024-02-16
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