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Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl, Anne; Lorenz, Myriam Ricarda; Führer, Marita; Willenbacher, Wolfgang; Willenbacher, Ella; Sopper, Sieghart; Abinun, Mario; Maccari, Maria Elena; König, Christoph; Haegele, Pauline; Fuchs, Sebastian; Castro, Carla; Kury, Patrick; Pelle, Olivier; Klemann, Christian; Heeg, Maximilian; Thalhammer, Julian; Wegehaupt, Oliver; Fischer, Marco; Goldacker, Sigune; Schulte, Björn; Biskup, Saskia; Chatelain, Philippe; Schuster, Volker; Warnatz, Klaus; Grimbacher, Bodo; Meinhardt, Andrea; Holzinger, Dirk; Oommen, Prasad Thomas; Hinze, Tanja; Hebart, Holger; Seeger, Karlheinz; Lehmberg, Kai; Leahy, Timothy Ronan; Claviez, Alexander; Vieth, Simon; Schilling, Freimut H; Fuchs, Ilka; Groß, Miriam; Rieux-Laucat, Frederic; Magerus, Aude; Speckmann, Carsten; Schwarz, Klaus; Ehl, Stephan.
Affiliation
  • Rensing-Ehl A; 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.
  • Lorenz MR; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
  • Führer M; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg - Hessen, Ulm, Germany.
  • Willenbacher W; Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; Syndena GmbH, Connect to cure, Innsbruck, Austria.
  • Willenbacher E; Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria.
  • Sopper S; Clinic for Internal Medicine V, Hematology and Oncology, Medical University Innsbruck, Innsbruck, Austria; Tyrolean Cancer Research Institute, Innsbruck, Austria.
  • Abinun M; Paediatric Immunology, Great North Children's Hospital, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Maccari ME; 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 - Univer
  • König C; 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.
  • Haegele P; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Fuchs S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Castro C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Kury P; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Pelle O; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Klemann C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Heeg M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Thalhammer J; 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.
  • Wegehaupt O; 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 - Univer
  • Fischer M; 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 - Univer
  • Goldacker S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Schulte B; Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany.
  • Biskup S; Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany.
  • Chatelain P; Center for Human Genetics, Paul-Ehrlich-Str. 23, Tuebingen, Germany.
  • Schuster V; Children's Hospital, Faculty of Medicine, University of Leipzig, Leipzig, Germany.
  • Warnatz K; 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
  • Grimbacher B; 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
  • Meinhardt A; Center for Pediatrics and Adolescent Medicine, Department of Pediatric Oncology, Hematology and Immunodeficiencies, University Hospital Giessen, Giessen, Germany.
  • Holzinger D; Department of Pediatric Hematology-Oncology, University of Duisburg-Essen, Essen, Germany; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany.
  • Oommen PT; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
  • Hinze T; Department of Pediatric Rheumatology and Immunology, University Hospital Münster, Münster, Germany.
  • Hebart H; Department of Internal Medicine, Kliniken Ostalb, Stauferklinikum, Mutlangen, Germany.
  • Seeger K; Charité Universitätsmedizin Berlin, Department of Pediatric Oncology/Hematology, Augustenburger Pl. 1, Berlin, Germany.
  • Lehmberg K; Department of Paediatric Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Leahy TR; Department of Paediatric Immunology/ID, Children's Health Ireland (CHI) at Crumlin, Dublin; University of Dublin, Trinity College, Dublin, Ireland.
  • Claviez A; Department of Pediatrics, University Medical Center, UKSH Campus Kiel, Kiel, Germany.
  • Vieth S; Department of Pediatrics, University Medical Center, UKSH Campus Kiel, Kiel, Germany.
  • Schilling FH; Department of Pediatric Oncology-Hematology-Immunology, Children's Hospital Lucerne, Lucerne, Switzerland.
  • Fuchs I; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Groß M; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Magerus A; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Université Paris Cité, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Speckmann C; 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 - Univer
  • Schwarz K; 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.
  • Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
J Allergy Clin Immunol ; 153(1): 297-308.e12, 2024 01.
Article de En | MEDLINE | ID: mdl-37979702
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Antigènes CD95 / Syndrome lymphoprolifératif avec auto-immunité Limites: Humans Langue: En Journal: J Allergy Clin Immunol Année: 2024 Type de document: Article Pays de publication: États-Unis d'Amérique
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Antigènes CD95 / Syndrome lymphoprolifératif avec auto-immunité Limites: Humans Langue: En Journal: J Allergy Clin Immunol Année: 2024 Type de document: Article Pays de publication: États-Unis d'Amérique