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Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain, Jérémie; Neehus, Anna-Lena; Manry, Jérémy; Yang, Rui; Le Pen, Jérémie; Daher, Wassim; Liu, Zhiyong; Chan, Yi-Hao; Tahuil, Natalia; Türel, Özden; Bourgey, Mathieu; Ogishi, Masato; Doisne, Jean-Marc; Izquierdo, Helena M; Shirasaki, Takayoshi; Le Voyer, Tom; Guérin, Antoine; Bastard, Paul; Moncada-Vélez, Marcela; Han, Ji Eun; Khan, Taushif; Rapaport, Franck; Hong, Seon-Hui; Cheung, Andrew; Haake, Kathrin; Mindt, Barbara C; Pérez, Laura; Philippot, Quentin; Lee, Danyel; Zhang, Peng; Rinchai, Darawan; Al Ali, Fatima; Ahmad Ata, Manar Mahmoud; Rahman, Mahbuba; Peel, Jessica N; Heissel, Søren; Molina, Henrik; Kendir-Demirkol, Yasemin; Bailey, Rasheed; Zhao, Shuxiang; Bohlen, Jonathan; Mancini, Mathieu; Seeleuthner, Yoann; Roelens, Marie; Lorenzo, Lazaro; Soudée, Camille; Paz, María Elvira Josefina; González, María Laura; Jeljeli, Mohamed; Soulier, Jean.
Afiliación
  • Rosain J; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France. Electronic address: jeremie.rosain@institutimagine.org.
  • Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Institute of Experimental Hematology, REBIRTH Center for Regenerative and Translational Medicine, Hannover Medical School, 30625 Hannover, Germany.
  • Manry J; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Yang R; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Le Pen J; Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY 10065, USA.
  • Daher W; Infectious Disease Research Institute of Montpellier (IRIM), Montpellier University, 34090 Montpellier, France; Inserm, IRIM, CNRS, UMR9004, 34090 Montpellier, France.
  • Liu Z; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Chan YH; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Tahuil N; Department of Immunology, Del Niño Jesus Hospital, San Miguel de Tucuman, T4000 Tucuman, Argentina.
  • Türel Ö; Department of Pediatric Infectious Disease, Bezmialem Vakif University Faculty of Medicine, 34093 Istanbul, Turkey.
  • Bourgey M; Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC H3A 0G1, Canada; Canadian Centre for Computation Genomics, Montreal, QC H3A 0G1, Canada.
  • Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Doisne JM; Innate Immunity Unit, Institut Pasteur, 75015 Paris, France; Inserm U1223, 75015 Paris, France.
  • Izquierdo HM; Institut Curie, PSL Research University, Inserm U932, 75005 Paris, France.
  • Shirasaki T; Department of Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7292, USA.
  • Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Guérin A; Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia; St. Vincent's Clinical School, Faculty of Medicine, University of NSW, Sydney, NSW 2052, Australia.
  • Bastard P; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Pediatric Hematology-Immunology a
  • Moncada-Vélez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Han JE; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Khan T; Department of Immunology, Sidra Medicine, Doha, Qatar.
  • Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Hong SH; Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY 10065, USA.
  • Cheung A; Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY 10065, USA.
  • Haake K; Institute of Experimental Hematology, REBIRTH Center for Regenerative and Translational Medicine, Hannover Medical School, 30625 Hannover, Germany.
  • Mindt BC; Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; McGill University Research Centre on Complex Traits, McGill University, Montreal, QC H3A 0G1, Canada; FOCiS Centre of Excellence in Translational Immunology, McGill University, Montreal, QC H3A 0G1, Canada.
  • Pérez L; Department of Immunology and Rheumatology, "J. P. Garrahan" National Hospital of Pediatrics, C1245 CABA Buenos Aires, Argentina.
  • Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Lee D; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Al Ali F; Department of Immunology, Sidra Medicine, Doha, Qatar.
  • Ahmad Ata MM; Department of Immunology, Sidra Medicine, Doha, Qatar.
  • Rahman M; Department of Immunology, Sidra Medicine, Doha, Qatar.
  • Peel JN; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Heissel S; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.
  • Molina H; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA.
  • Kendir-Demirkol Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA; Umraniye Education and Research Hospital, Department of Pediatric Genetics, 34764 Istanbul, Turkey.
  • Bailey R; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Zhao S; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY 10065, USA.
  • Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Mancini M; Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC H3A 0G1, Canada; Department of Microbiology and Immunology, McGill University, Montreal, QC H3A 0G1, Canada; McGill University Research Centre on Complex Traits, McGill University, Montreal, QC H3A 0G1, Canada.
  • Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Roelens M; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France; Paris Cité University, 75006 Paris, France.
  • Lorenzo L; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Soudée C; Laboratory of Human Genetics of Infectious Diseases, Inserm U1163, 75015 Paris, France; Paris Cité University, Imagine Institute, 75015 Paris, France.
  • Paz MEJ; Department of Pediatric Pathology, Del Niño Jesus Hospital, San Miguel de Tucuman, T4000 Tucuman, Argentina.
  • González ML; Central Laboratory, Del Niño Jesus Hospital, San Miguel de Tucuman, T4000 Tucuman, Argentina.
  • Jeljeli M; Cochin University Hospital, Biological Immunology Unit, AP-HP, 75014 Paris, France.
  • Soulier J; Inserm/CNRS U944/7212, Paris Cité University, 75006 Paris, France; Hematology Laboratory, Saint-Louis Hospital, AP-HP, 75010 Paris, France; National Reference Center for Bone Marrow Failures, Saint-Louis and Robert Debré Hospitals, 75010 Paris, France.
Cell ; 186(3): 621-645.e33, 2023 02 02.
Article en En | MEDLINE | ID: mdl-36736301
Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/ß-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, life-threatening diseases caused by weakly virulent mycobacteria and related intramacrophagic pathogens. These children have no history of severe viral disease, despite exposure to many viruses, including SARS-CoV-2, which is life-threatening in individuals with impaired IFN-α/ß immunity. In leukocytes or fibroblasts stimulated in vitro, IRF1-dependent responses to IFN-γ are, both quantitatively and qualitatively, much stronger than those to IFN-α/ß. Moreover, IRF1-deficient mononuclear phagocytes do not control mycobacteria and related pathogens normally when stimulated with IFN-γ. By contrast, IFN-α/ß-dependent intrinsic immunity to nine viruses, including SARS-CoV-2, is almost normal in IRF1-deficient fibroblasts. Human IRF1 is essential for IFN-γ-dependent macrophagic immunity to mycobacteria, but largely redundant for IFN-α/ß-dependent antiviral immunity.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: COVID-19 / Mycobacterium Límite: Child / Humans Idioma: En Revista: Cell Año: 2023 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: COVID-19 / Mycobacterium Límite: Child / Humans Idioma: En Revista: Cell Año: 2023 Tipo del documento: Article