换一批
第一作者：
Vivien,Béziat
第一单位：
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.;University of Paris, Imagine Institute, Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
作者：
Vivien,Béziat [1]
;
Simon J,Tavernier [2]
;
Yin-Huai,Chen [3]
;
Cindy S,Ma [4]
;
Marie,Materna [5]
;
Arian,Laurence [3]
;
Jens,Staal [6]
;
Dominik,Aschenbrenner [3]
;
Lisa,Roels [7]
;
Lisa,Worley [4]
;
Kathleen,Claes [8]
;
Lisa,Gartner [3]
;
Lisa A,Kohn [9]
;
Marieke,De Bruyne [8]
;
Klaus,Schmitz-Abe [10]
;
Louis-Marie,Charbonnier [11]
;
Sevgi,Keles [12]
;
Justine,Nammour [5]
;
Natasha,Vladikine [5]
;
Majistor Raj Luxman,Maglorius Renkilaraj [5]
;
Yoann,Seeleuthner [5]
;
Mélanie,Migaud [5]
;
Jérémie,Rosain [5]
;
Mohamed,Jeljeli [13]
;
Bertrand,Boisson [1]
;
Eva,Van Braeckel [14]
;
Jill A,Rosenfeld [15]
;
Hongzheng,Dai [15]
;
Lindsay C,Burrage [15]
;
David R,Murdock [15]
;
Bart N,Lambrecht [16]
;
Véronique,Avettand-Fenoel [17]
;
Tiphanie P,Vogel [18]
;
Undiagnosed Diseases Network [19]
;
Charles R,Esther [20]
;
Sule,Haskologlu [20]
;
Figen,Dogu [21]
;
Peter,Ciznar [22]
;
David,Boutboul [23]
;
Marie,Ouachée-Chardin [24]
;
Jean,Amourette [25]
;
Marie-Noëlle,Lebras [26]
;
Clément,Gauvain [27]
;
Colas,Tcherakian [20]
;
Aydan,Ikinciogullari [6]
;
Rudi,Beyaert [1]
;
Laurent,Abel [28]
;
Joshua D,Milner [29]
;
Bodo,Grimbacher [30]
;
Louis-Jean,Couderc [9]
;
Manish J,Butte [31]
;
Alexandra F,Freeman [27]
;
Émilie,Catherinot [32]
;
Claire,Fieschi [11]
;
Talal A,Chatila [4]
;
Stuart G,Tangye [3]
;
Holm H,Uhlig [33]
;
Filomeen,Haerynck [34]
;
Jean-Laurent,Casanova [1]
;
Anne,Puel
作者单位：
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.;University of Paris, Imagine Institute, Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
[1]
Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.;VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium.
[2]
Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.;Department of Paediatrics, University of Oxford, Oxford, UK.
[3]
Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Sydney, New South Wales, Australia.;St. Vincent's Clinical School, UNSW Sydney, Sydney, New South Wales, Australia.
[4]
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.;University of Paris, Imagine Institute, Paris, France.
[5]
VIB-UGent Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Ghent, Belgium.
[6]
Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.
[7]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
[8]
Division of Immunology, Allergy, and Rheumatology, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA.
[9]
Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.;Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.;The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.
[10]
Department of Pediatrics, Harvard Medical School, Boston, MA.;Division of Immunology, Boston Children's Hospital, Boston, MA.
[11]
Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey.
[12]
Cochin University Hospital, Biological Immunology Unit, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
[13]
Department of Respiratory Medicine, Ghent University Hospital, Ghent Belgium.
[14]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
[15]
VIB-UGent Center for Inflammation Research, Unit of Immunoregulation and Mucosal Immunology, Ghent, Belgium.;Department of Internal Medicine and Pediatrics, Ghent University, Ghent, Belgium.
[16]
Laboratory of Clinical Microbiology, Virology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
[17]
Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX.
[18]
Pediatric Pulmonology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
[19]
Division of Pediatric Immunology and Allergy, Ankara University School of Medicine, Sıhhıye, Ankara, Turkey.
[20]
Department of Pediatrics, Faculty of Medicine Comenius University and Children's University Hospital, Bratislava, Slovakia.
[21]
Clinical Immunology Department, Saint Louis Hospital, AP-HP de Paris University of Paris, Paris, France.
[22]
Department of Pediatric Hematology and Immunology, Robert Debré Hospital, AP-HP, Paris, France.
[23]
Pulmonology Department, Centre Hospitalier d'Arras, Arras, France.
[24]
Pediatric Pulmonology, Infectious Disease and Internal Medicine Department, AP-HP, Robert Debré Hospital, Paris, France.
[25]
Thoracic Oncology Department, Lille University Hospital, Lille, France.
[26]
Hôpital Foch, Pulmonology Department, Suresnes, France.
[27]
National Institute of Allergy and Infectious Diseases, Bethesda, MD.;Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.
[28]
Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwig University of Freiburg, Freiburg, Germany.;German Center for Infection Research, Satellite Center Freiburg, Freiburg, Germany.;Centre for Integrative Biological Signaling Studies, Albert Ludwig University, Freiburg, Germany.;RESIST, Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany.;Institute of Immunity and Transplantation, Royal Free Hospital, University College London, London, UK.
[29]
Hôpital Foch, Pulmonology Department, Suresnes, France.;Simone Veil Faculty of Life Sciences, Versailles-Paris Saclay University, UPRES EA-220, Suresnes, France.
[30]
National Institute of Allergy and Infectious Diseases, Bethesda, MD.
[31]
Clinical Immunology Department, Saint Louis Hospital, AP-HP de Paris University of Paris, Paris, France.;INSERM UMR1126, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
[32]
Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.;Department of Internal Medicine and Pediatrics, Division of Pediatric Immunology and Pulmonology, Ghent University Hospital, Ghent, Belgium.
[33]
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale (INSERM) U1163, Paris, France.;University of Paris, Imagine Institute, Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.;Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.;Howard Hughes Medical Institute, New York, NY.
[34]
主题词
青少年(Adolescent);等位基因(Alleles);C反应蛋白质(C-Reactive Protein);细胞膜(Cell Membrane);细胞, 培养的(Cells, Cultured);儿童(Child);细胞因子受体gp130(Cytokine Receptor gp130);细胞因子类(Cytokines);女(雌)性(Female);成纤维细胞(Fibroblasts);基因, 显性(Genes, Dominant);遗传学, 群体(Genetics, Population);HEK293细胞(HEK293 Cells);人类(Humans);动力学(Kinetics);男(雄)性(Male);中年人(Middle Aged);模型, 生物学(Models, Biological);突变(Mutation);系谱(Pedigree);表型(Phenotype);Th2细胞(Th2 Cells);增量调节(Up-Regulation);青年人(Young Adult)
DOI
10.1084/jem.20191804
PMID
32207811
发布时间
2023-11-29
- 浏览4
The Journal of experimental medicine
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