Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
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]
主题词
人类(Humans);干扰素Ⅰ型(Interferon Type I);女(雌)性(Female);自身抗体(Autoantibodies);胸腺(Thymus Gland);儿童(Child);色素失调症(Incontinentia Pigmenti);儿童, 学龄前(Child, Preschool);I-κB激酶(I-kappa B Kinase);病毒性疾病(Virus Diseases);婴儿(Infant);成年人(Adult);青少年(Adolescent);青年人(Young Adult)
DOI
10.1084/jem.20231152
PMID
39352576
发布时间
2025-01-04
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The Journal of experimental medicine
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