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Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

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作者: Jérémie,Rosain [1] ; Tom,Le Voyer [2] ; Xian,Liu [3] ; Adrian,Gervais [4] ; Laura,Polivka [5] ; Axel,Cederholm [6] ; Laureline,Berteloot [7] ; Audrey V,Parent [3] ; Alessandra,Pescatore [8] ; Ezia,Spinosa [8] ; Snezana,Minic [9] ; Ana Elisa,Kiszewski [10] ; Miyuki,Tsumura [11] ; Chloé,Thibault [4] ; Maria,Esnaola Azcoiti [4] ; Jelena,Martinovic [12] ; Quentin,Philippot [4] ; Taushif,Khan [13] ; Astrid,Marchal [4] ; Bénédicte,Charmeteau-De Muylder [14] ; Lucy,Bizien [4] ; Caroline,Deswarte [4] ; Lillia,Hadjem [15] ; Marie-Odile,Fauvarque [16] ; Karim,Dorgham [17] ; Daniel,Eriksson [18] ; Emilia Liana,Falcone [19] ; Mathilde,Puel [20] ; Sinem,Ünal [4] ; Amyrath,Geraldo [4] ; Corentin,Le Floc'h [4] ; Hailun,Li [4] ; Sylvie,Rheault [21] ; Christine,Muti [22] ; Claire,Bobrie-Moyrand [23] ; Anne,Welfringer-Morin [24] ; Ramsay L,Fuleihan [25] ; Romain,Lévy [26] ; Marie,Roelens [27] ; Liwei,Gao [4] ; Marie,Materna [4] ; Silvia,Pellegrini [28] ; Lorenzo,Piemonti [28] ; Emilie,Catherinot [29] ; Jean-Christophe,Goffard [30] ; Arnaud,Fekkar [31] ; Aissata,Sacko-Sow [32] ; Camille,Soudée [4] ; Soraya,Boucherit [4] ; Anna-Lena,Neehus [4] ; Cristina,Has [33] ; Stefanie,Hübner [34] ; Géraldine,Blanchard-Rohner [35] ; Blanca,Amador-Borrero [36] ; Takanori,Utsumi [11] ; Maki,Taniguchi [11] ; Hiroo,Tani [37] ; Kazushi,Izawa [38] ; Takahiro,Yasumi [38] ; Sotaro,Kanai [39] ; Mélanie,Migaud [4] ; Mélodie,Aubart [40] ; Nathalie,Lambert [20] ; Guy,Gorochov [41] ; Capucine,Picard [42] ; Claire,Soudais [43] ; Anne-Sophie,L'Honneur [44] ; Flore,Rozenberg [44] ; Joshua D,Milner [25] ; Shen-Ying,Zhang [45] ; Pierre,Vabres [46] ; Dusan,Trpinac [47] ; Nico,Marr [48] ; Nathalie,Boddaert [7] ; Isabelle,Desguerre [49] ; Manolis,Pasparakis [50] ; Corey N,Miller [3] ; Cláudia S,Poziomczyk [51] ; Laurent,Abel [45] ; Satoshi,Okada [11] ; Emmanuelle,Jouanguy [45] ; Rémi,Cheynier [14] ; Qian,Zhang [45] ; Aurélie,Cobat [45] ; Vivien,Béziat [45] ; Bertrand,Boisson [45] ; Julie,Steffann [52] ; Francesca,Fusco [8] ; Matilde Valeria,Ursini [8] ; Smail,Hadj-Rabia [24] ; Christine,Bodemer [24] ; Jacinta,Bustamante [1] ; Hervé,Luche [15] ; Anne,Puel [45] ; Gilles,Courtois [16] ; Paul,Bastard [26] ; Nils,Landegren [53] ; Mark S,Anderson [3] ; Jean-Laurent,Casanova [54]
作者单位: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.;Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France. [1] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.;Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France. [2] Diabetes Center, University of California San Francisco , San Francisco, CA, USA. [3] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France. [4] Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.;Reference Center for Mastocytosis (CEREMAST), Necker Hospital for Sick Children, AP-HP , Paris, France. [5] Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden. [6] Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France. [7] Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy. [8] Clinics of Dermatovenerology, Clinical Center of Serbia , Belgrade, Serbia.;School of Medicine, University of Belgrade , Belgrade, Serbia. [9] Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.;Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil. [10] Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan. [11] Unit of Fetal Pathology, Hospital Antoine Béclère, Paris Saclay University , Paris, France. [12] Department of Immunology, Sidra Medicine, Doha, Qatar. [13] University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France. [14] Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France. [15] University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France. [16] Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France. [17] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [18] Center for Immunity, Inflammation and Infectious Diseases, Montréal Clinical Research Institute (IRCM) , Montréal, Canada.;Department of Medicine, Montréal University, Montréal, Canada. [19] Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France. [20] Department of Medicine, Montréal University, Montréal, Canada.;Center of Research of the Geriatric University Institute of Montréal, University of Montréal , Montréal, Canada. [21] Department of Genetics, André Mignot Hospital, Versailles, France. [22] Department of Obstetrics and Gynecology, André Mignot Hospital, Versailles, France. [23] Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France. [24] Department of Pediatrics, Columbia University Medical Center, New York, NY, USA. [25] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.;Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France. [26] Imagine Institute, University of Paris Cité , Paris, France.;Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France. [27] Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy. [28] Department of Respiratory Diseases, Foch Hospital, Suresnes, France. [29] Internal Medicine, Brussels University Hospital, Free University of Brussels, Anderlecht, Belgium. [30] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;Department of Parasitology Mycology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France. [31] Department of Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France. [32] Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.;European Reference Network (ERN) for Rare and Undiagnosed Skin Disorders. [33] Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany. [34] Unit of Immunology, Vaccinology, and Rheumatology, Division of General Pediatrics, Department of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland. [35] Internal Medicine Department, Lariboisière Hospital, AP-HP, University of Paris Cité, Paris, France. [36] Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.;Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan. [37] Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan. [38] Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan. [39] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France. [40] Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.;Department of Immunology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France. [41] Imagine Institute, University of Paris Cité , Paris, France.;Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.;Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France. [42] Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France. [43] Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France. [44] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. [45] MAGEC Reference Center for Rare Skin Diseases, Dijon Bourgogne University Hospital, Dijon, France. [46] Institute of Histology and Embryology, School of Medicine, University of Belgrade , Belgrade, Serbia. [47] Department of Immunology, Sidra Medicine, Doha, Qatar.;College of Health and Life Sciences, Hamad Bin Khalifa University , Doha, Qatar. [48] Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France. [49] Institute for Genetics, University of Cologne , Cologne, Germany. [50] Private Dermatology Practice , Porto Alegre, Brazil. [51] Department of Genomic Medicine, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France. [52] Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.;Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden. [53] Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.;Imagine Institute, University of Paris Cité , Paris, France.;St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.;Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.;Howard Hughes Medical Institute , New York, NY, USA. [54]
DOI 10.1084/jem.20231152
PMID 39352576
发布时间 2025-01-04
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