换一批
换一批Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
作者：
Jonathan,Bohlen [1]
;
Ivan,Bagarić [2]
;
Taja,Vatovec [2]
;
Masato,Ogishi [3]
;
Syed F,Ahmed [4]
;
Axel,Cederholm [5]
;
Lori,Buetow [4]
;
Steicy,Sobrino [6]
;
Corentin,Le Floc'h [1]
;
Carlos A,Arango-Franco [7]
;
Luis,Seabra [8]
;
Marine,Michelet [9]
;
Federica,Barzaghi [10]
;
Davide,Leardini [11]
;
Francesco,Saettini [12]
;
Francesca,Vendemini [13]
;
Francesco,Baccelli [11]
;
Albert,Catala [14]
;
Eleonora,Gambineri [15]
;
Marinella,Veltroni [16]
;
Yurena,Aguilar de la Red [17]
;
Gillian I,Rice [18]
;
Filippo,Consonni [19]
;
Laureline,Berteloot [20]
;
Laetitia,Largeaud [21]
;
Francesca,Conti [22]
;
Cécile,Roullion [23]
;
Cécile,Masson [24]
;
Boris,Bessot [8]
;
Yoann,Seeleuthner [1]
;
Tom,Le Voyer [25]
;
Darawan,Rinchai [3]
;
Jérémie,Rosain [26]
;
Anna-Lena,Neehus [1]
;
Lucia,Erazo-Borrás [7]
;
Hailun,Li [1]
;
Zarah,Janda [27]
;
En-Jui,Cho [27]
;
Edoardo,Muratore [11]
;
Camille,Soudée [1]
;
Candice,Lainé [1]
;
Eric,Delabesse [28]
;
Claire,Goulvestre [29]
;
Cindy S,Ma [30]
;
Anne,Puel [31]
;
Stuart G,Tangye [30]
;
Isabelle,André [8]
;
Christine,Bole-Feysot [23]
;
Laurent,Abel [31]
;
Miriam,Erlacher [32]
;
Shen-Ying,Zhang [31]
;
Vivien,Béziat [31]
;
Chantal,Lagresle-Peyrou [33]
;
Emmanuelle,Six [34]
;
Marlène,Pasquet [35]
;
Laia,Alsina [36]
;
Alessandro,Aiuti [37]
;
Peng,Zhang [3]
;
Yanick J,Crow [38]
;
Nils,Landegren [39]
;
Riccardo,Masetti [9]
;
Danny T,Huang [40]
;
Jean-Laurent,Casanova [41]
;
Jacinta,Bustamante [26]
作者单位：
Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.;Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.
[1]
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.
[2]
St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.
[3]
Cancer Research UK Scotland Institute, Glasgow, United Kingdom.
[4]
Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
[5]
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.
[6]
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.
[7]
Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.
[8]
Unit of Allergy and Pneumology, Children's Hospital, Toulouse, France.
[9]
San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
[10]
Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
[11]
Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
[12]
Department of Pediatrics, Fondazione IRCCS San Gerardo, Monza, Italy.
[13]
Pediatric Hematology and Oncology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
[14]
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.
[15]
Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy.
[16]
Pediatric Oncology and Hematology Department, Miguel Servet Hospital, Zaragoza, Spain.
[17]
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.
[18]
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.
[19]
Department of Pediatric Imaging, Necker Hospital for Sick Children, Paris, France.;INSERM U1163, Paris, France.
[20]
Laboratory of Hematology, Hospital Center of the University of Toulouse, Toulouse, France.
[21]
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.;Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy.
[22]
Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.;Genomics Core Facility and.
[23]
Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.;Bioinformatic Plateform, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Cité University, Paris, France.
[24]
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.
[25]
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.
[26]
Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.;Heidelberg University, Heidelberg, Germany.
[27]
Department of Hematology, CHU and Centre de Recherche de Cancérologie de Toulouse, Paul-Sabatier University, Toulouse, France.
[28]
Laboratory of Immunology, Cochin Hospital, Paris, France.
[29]
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.
[30]
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.
[31]
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.
[32]
Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.;Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, AP-HP, INSERM, Paris, France.
[33]
Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.;Laboratory of Human Lymphohematopoiesis, INSERM U1163, Imagine Institute, Paris, France.
[34]
Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Toulouse, Toulouse, France.
[35]
Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain.
[36]
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.
[37]
Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.;MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom.
[38]
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.
[39]
Cancer Research UK Scotland Institute, Glasgow, United Kingdom.;School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom.
[40]
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.
[41]
主题词
人类(Humans);杂合子丢失(Loss of Heterozygosity);原癌基因蛋白质c-cbl(Proto-Oncogene Proteins c-cbl);单核细胞(Monocytes);MAP激酶信号系统(MAP Kinase Signaling System);男(雄)性(Male);女(雌)性(Female);炎症(Inflammation);杂合子(Heterozygote);细胞因子类(Cytokines);成年人(Adult)
DOI
10.1172/JCI181604
PMID
39403923
发布时间
2025-02-05
- 浏览0
The Journal of clinical investigation
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