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Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé, Olivier; Moreno, Solange; Lorenz, Myriam Ricarda; Riller, Quentin; Fuehrer, Marita; Stolzenberg, Marie-Claude; Maccari, Maria Elena; Lenoir, Christelle; Cheminant, Morgane; Hinze, Tanja; Hebart, Holger F; König, Christoph; Schvartz, Adrien; Schmitt, Yohann; Vinit, Angélique; Henry, Emilie; Touzart, Aurore; Villarese, Patrick; Isnard, Pierre; Neveux, Nathalie; Landman-Parker, Judith; Picard, Capucine; Fouyssac, Fanny; Neven, Bénédicte; Grimbacher, Bodo; Speckmann, Carsten; Fischer, Alain; Latour, Sylvain; Schwarz, Klaus; Ehl, Stephan; Rieux-Laucat, Frédéric; Rensing-Ehl, Anne; Magérus, Aude.
Afiliación
  • Pellé O; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Moreno S; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Lorenz MR; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Riller Q; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Fuehrer M; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg-Hessen, Ulm, Germany; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freibur
  • Stolzenberg MC; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Maccari ME; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, 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 Fr
  • Lenoir C; University of Paris Cité, Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Cheminant M; Clinical Hematology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; French National Reference Centre for Primary Immunodeficiencies (CEREDIH), Paris, France.
  • Hinze T; Department of Pediatric Rheumatology and Immunology, University Hospital Münster, Münster, Germany.
  • Hebart HF; Department of Internal Medicine, Kliniken Ostalb, Stauferklinikum, Mutlangen, Germany.
  • König C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.
  • Schvartz A; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Schmitt Y; University of Paris Cité, Paris, France; Genomics Core Facility, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris, France.
  • Vinit A; Sorbonne Université, UMS037, PASS, Plateforme de Cytométrie de la Pitié-Salpêtrière CyPS, Paris, France.
  • Henry E; Genomics Platform, Translational Research Department, Research Center, Institut Curie, Paris Sciences et Lettres (PSL) Research University, Paris, France.
  • Touzart A; Laboratory of Onco-Hematology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Institut Necker-Enfants Malades (INEM), INSERM U1151, Paris, France.
  • Villarese P; Laboratory of Onco-Hematology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Institut Necker-Enfants Malades (INEM), INSERM U1151, Paris, France.
  • Isnard P; Institut Necker-Enfants Malades (INEM), INSERM U1151, Paris, France; Department of Pathology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Neveux N; Laboratory of Biological Nutrition, Faculty of Pharmacy, Paris University, Paris, France; Clinical Chemistry Department, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Landman-Parker J; Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP) Armand Trousseau, Paris, France.
  • Picard C; University of Paris Cité, Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Imagine Institute, INSERM UMR 1163, Paris, France; Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, Fra
  • Fouyssac F; Pediatric Oncology and Hematology Unit, Children Hospital, Vandoeuvre-les-Nancy, Paris, France.
  • Neven B; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Pediatric Immuno-hematology and Rheumatology Department, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, F
  • Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Speckmann C; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, 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 Fr
  • Fischer A; University of Paris Cité, Paris, France; Pediatric Immuno-hematology and Rheumatology Department, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France; Collège de France, Paris, France.
  • Latour S; University of Paris Cité, Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France.
  • Schwarz K; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; 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, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Rieux-Laucat F; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France. Electronic address: frederic.rieux-laucat@inserm.fr.
  • Rensing-Ehl A; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Magérus A; University of Paris Cité, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, INSERM UMR 1163, Paris, France; Imagine Institute, INSERM UMR 1163, Paris, France. Electronic address: aude.magerus@inserm.fr.
J Allergy Clin Immunol ; 153(1): 203-215, 2024 01.
Article en En | MEDLINE | ID: mdl-37793571
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína de Dominio de Muerte Asociada a Fas / Síndrome Linfoproliferativo Autoinmune Límite: Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteína de Dominio de Muerte Asociada a Fas / Síndrome Linfoproliferativo Autoinmune Límite: Humans Idioma: En Revista: J Allergy Clin Immunol Año: 2024 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos