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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Autor: Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Bagarić I; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Heidelberg University, Heidelberg, Germany., Vatovec T; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Heidelberg University, Heidelberg, Germany., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Ahmed SF; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Buetow L; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Sobrino S; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Chromatin and Gene Regulation during Development, Paris Cité University, INSERM U1163, Imagine Institute, Paris, France.; Laboratory of Human Lymphohematopoiesis, INSERM U1163, Imagine Institute, Paris, France., Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Arango-Franco CA; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Seabra L; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Michelet M; Unit of Allergy and Pneumology, Children's Hospital, Toulouse, France., Barzaghi F; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Leardini D; Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Vendemini F; Department of Pediatrics, Fondazione IRCCS San Gerardo, Monza, Italy., Baccelli F; Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Catala A; Pediatric Hematology and Oncology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Gambineri E; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.; Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy., Veltroni M; Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy., Aguilar de la Red Y; Pediatric Oncology and Hematology Department, Miguel Servet Hospital, Zaragoza, Spain., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Consonni F; Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy.; 'Mario Serio' Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Berteloot L; Department of Pediatric Imaging, Necker Hospital for Sick Children, Paris, France.; INSERM U1163, Paris, France., Largeaud L; Laboratory of Hematology, Hospital Center of the University of Toulouse, Toulouse, France., Conti F; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy., Roullion C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Genomics Core Facility and., Masson C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Bioinformatic Plateform, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Cité University, Paris, France., Bessot B; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France., Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-AP-HP, Paris, France., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Erazo-Borrás L; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Li H; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Janda Z; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Heidelberg University, Heidelberg, Germany., Cho EJ; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Heidelberg University, Heidelberg, Germany., Muratore E; Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Lainé C; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Delabesse E; Department of Hematology, CHU and Centre de Recherche de Cancérologie de Toulouse, Paul-Sabatier University, Toulouse, France., Goulvestre C; Laboratory of Immunology, Cochin Hospital, Paris, France., Ma CS; Garvan Institute of Medical Research, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, Australia., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Tangye SG; Garvan Institute of Medical Research, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, Australia., André I; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Bole-Feysot C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Genomics Core Facility and., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Erlacher M; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Lagresle-Peyrou C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, AP-HP, INSERM, Paris, France., Six E; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Lymphohematopoiesis, INSERM U1163, Imagine Institute, Paris, France., Pasquet M; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Toulouse, Toulouse, France., Alsina L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Università Vita-Salute San Raffaele, Milan, Italy., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Crow YJ; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Masetti R; Unit of Allergy and Pneumology, Children's Hospital, Toulouse, France., Huang DT; Cancer Research UK Scotland Institute, Glasgow, United Kingdom.; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Department of Pediatrics, Necker Hospital for Sick Children-AP-HP, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-AP-HP, Paris, France.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Oct 15; Vol. 134 (20). Date of Electronic Publication: 2024 Oct 15.