Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome

Olga Staudacher1,2, Jeanette Klein3, Stephanie Thee1, Jan Ullrich1, Volker Wahn1, Nadine Unterwalder2, Uwe Kölsch2, Erwin Lankes3,4, Anna Stittrich5, Cinzia Dedieu1, Sarah Dinges1, Mirjam Völler1, Catharina Schuetz6, Johannes Schulte7, Kaan Boztug8,9,10,11,12, Christian Meisel2,13, Jörn-Sven Kuehl7,14, Renate Krüger1, Oliver Blankenstein3, Horst von Bernuth1,2,15,16
1Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité—Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
2Department of Immunology, Labor Berlin Charité-Vivantes, Berlin, Germany
3Newborn Screening Laboratory, Charité Universitätsmedizin, Berlin, Germany
4Department of Pediatric Endocrinology, Charité—Uninrsitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
5Department of Human Genetics, Labor Berlin Charité-Vivantes, Berlin, Germany
6Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
7Department of Pediatric Hematology and Oncology, Charité—Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany
8Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria
9St Anna Children’s Cancer Research Institute, Vienna, Austria
10CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria
11Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
12Department of Pediatrics and Adolescent Medicine, St. Anna Children’s Hospital, Medical University of Vienna, Vienna, Austria
13Institute of Medical Immunology, Charité—Universitätsmedizin Berlin, Berlin, Germany
14Department of Pediatric Oncology, Hematology and Hemostaseology, University of Leipzig, Leipzig, Germany
15Berlin Institute of Health (BIH), Charité—Universitätsmedizin Berlin, Berlin, Germany
16Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité—Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany

Tài liệu tham khảo

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