Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
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- Danyel Lee
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Jérémie Le Pen
- Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.
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- Ahmad Yatim
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Beihua Dong
- Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
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- Yann Aquino
- Human Evolutionary Genetics Unit, Institut Pasteur, Paris City University, CNRS UMR 2000, Paris, France.
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- Masato Ogishi
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Rémi Pescarmona
- Laboratory of Immunology, Lyon Sud Hospital, Lyon, France.
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- Estelle Talouarn
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Darawan Rinchai
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Peng Zhang
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Magali Perret
- Laboratory of Immunology, Lyon Sud Hospital, Lyon, France.
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- Zhiyong Liu
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Iolanda Jordan
- Pediatric Intensive Care Department, Hospital Sant Joan de Déu, Barcelona, Spain.
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- Sefika Elmas Bozdemir
- Bursa City Hospital, Bursa, Turkey.
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- Gulsum Iclal Bayhan
- Ankara City Hospital, Yildirim Beyazit University, Ankara, Turkey.
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- Camille Beaufils
- Immunology and Rheumatology Division, Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.
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- Lucy Bizien
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Aurelie Bisiaux
- Human Evolutionary Genetics Unit, Institut Pasteur, Paris City University, CNRS UMR 2000, Paris, France.
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- Weite Lei
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Milena Hasan
- Center for Translational Research, Institut Pasteur, Paris City University, Paris, France.
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- Jie Chen
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Christina Gaughan
- Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
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- Abhishek Asthana
- Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
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- Valentina Libri
- Center for Translational Research, Institut Pasteur, Paris City University, Paris, France.
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- Joseph M. Luna
- Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.
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- Fabrice Jaffré
- Department of Surgery, Weill Cornell Medical College, New York, NY, USA.
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- H.-Heinrich Hoffmann
- Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.
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- Eleftherios Michailidis
- Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.
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- Marion Moreews
- International Center of Infectiology Research (CIRI), University of Lyon, INSERM U1111, Claude Bernard University, Lyon 1, CNRS, UMR5308, ENS of Lyon, Lyon, France.
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- Yoann Seeleuthner
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Kaya Bilguvar
- Departments of Neurosurgery and Genetics and Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, USA.
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- Shrikant Mane
- Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
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- Carlos Flores
- Research Unit, Nuestra Señora de la Candelaria University Hospital, Santa Cruz de Tenerife, Spain.
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- Yu Zhang
- Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
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- Andrés A. Arias
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Rasheed Bailey
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Agatha Schlüter
- Neurometabolic Diseases Laboratory, IDIBELL–Hospital Duran I Reynals, CIBERER U759, ISIiii, Madrid, Spain.
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- Baptiste Milisavljevic
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Benedetta Bigio
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Tom Le Voyer
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Marie Materna
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Adrian Gervais
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Marcela Moncada-Velez
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Francesca Pala
- Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
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- Tomi Lazarov
- Immunology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
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- Romain Levy
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Anna-Lena Neehus
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Jérémie Rosain
- Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.
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- Jessica Peel
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Yi-Hao Chan
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Marie-Paule Morin
- Immunology and Rheumatology Division, Department of Pediatrics, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.
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- Rosa Maria Pino-Ramirez
- Pediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain.
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- Serkan Belkaya
- Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey.
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- Lazaro Lorenzo
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Jordi Anton
- Department of Surgery and Surgical Specializations, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.
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- Selket Delafontaine
- Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
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- Julie Toubiana
- Department of General Pediatrics and Pediatric Infectious Diseases, Necker Hospital for Sick Children, Assistance Publique–Hôpitaux de Paris (AP-HP), Paris City University, Paris, France.
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- Fanny Bajolle
- Department of Pediatric Cardiology, Necker Hospital for Sick Children, AP-HP, Paris City University, Paris, France.
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- Victoria Fumadó
- Kids Corona Platform, Barcelona, Spain.
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- Marta L. DeDiego
- Department of Molecular and Cellular Biology, National Center for Biotechnology (CNB-CSIC), Madrid, Spain.
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- Nadhira Fidouh
- Laboratory of Virology, Bichat–Claude Bernard Hospital, Paris, France.
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- Flore Rozenberg
- Laboratory of Virology, AP-HP, Cochin Hospital, Paris, France.
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- Jordi Pérez-Tur
- Molecular Genetics Unit, Institute of Biomedicine of Valencia (IBV-CSIC), Valencia, Spain.
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- Shuibing Chen
- Department of Surgery, Weill Cornell Medical College, New York, NY, USA.
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- Todd Evans
- Department of Surgery, Weill Cornell Medical College, New York, NY, USA.
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- Frédéric Geissmann
- Immunology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
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- Pierre Lebon
- Medical School, Paris City University, Paris, France.
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- Susan R. Weiss
- Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
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- Damien Bonnet
- Department of Pediatric Cardiology, Necker Hospital for Sick Children, AP-HP, Paris City University, Paris, France.
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- Xavier Duval
- Bichat–Claude Bernard Hospital, Paris, France.
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- Qiang Pan-Hammarström
- Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden.
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- Anna M. Planas
- Department of Neuroscience and Experimental Therapeutics, Institute for Biomedical Research of Barcelona (IIBB), Spanish National Research Council (CSIC), Barcelona, Spain.
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- Isabelle Meyts
- Department of Pediatrics, University Hospitals Leuven and Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.
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- Filomeen Haerynck
- Primary Immunodeficiency Research Laboratory, Center for Primary Immunodeficiency Ghent, Ghent University Hospital, Ghent, Belgium.
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- Aurora Pujol
- Neurometabolic Diseases Laboratory, IDIBELL–Hospital Duran I Reynals; and Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain.
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- Vanessa Sancho-Shimizu
- Department of Paediatric Infectious Diseases and Virology, Imperial College London, London, UK.
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- Clifford L. Dalgard
- The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
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- Jacinta Bustamante
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Anne Puel
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Stéphanie Boisson-Dupuis
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Bertrand Boisson
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Tom Maniatis
- New York Genome Center, New York, NY, USA.
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- Qian Zhang
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Paul Bastard
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Luigi Notarangelo
- Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
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- Vivien Béziat
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Rebeca Perez de Diego
- Laboratory of Immunogenetics of Human Diseases, Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.
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- Carlos Rodriguez-Gallego
- Department of Clinical Sciences, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain.
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- Helen C. Su
- Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.
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- Richard P. Lifton
- Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
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- Emmanuelle Jouanguy
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Aurélie Cobat
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Laia Alsina
- Kids Corona Platform, Barcelona, Spain.
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- Sevgi Keles
- Necmettin Erbakan University, Konya, Turkey.
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- Elie Haddad
- Department of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, University of Montreal and Immunology and Rheumatology Division, CHU Sainte-Justine, Montreal, QC, Canada.
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- Laurent Abel
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Alexandre Belot
- International Center of Infectiology Research (CIRI), University of Lyon, INSERM U1111, Claude Bernard University, Lyon 1, CNRS, UMR5308, ENS of Lyon, Lyon, France.
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- Lluis Quintana-Murci
- Human Evolutionary Genetics Unit, Institut Pasteur, Paris City University, CNRS UMR 2000, Paris, France.
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- Charles M. Rice
- Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA.
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- Robert H. Silverman
- Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.
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- Shen-Ying Zhang
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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- Jean-Laurent Casanova
- St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
書誌事項
- 公開日
- 2023-02-10
- DOI
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- 10.1126/science.abo3627
- 公開者
- American Association for the Advancement of Science (AAAS)
この論文をさがす
説明
<jats:p> Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of <jats:italic>OAS1</jats:italic> , <jats:italic>OAS2</jats:italic> , or <jats:italic>RNASEL</jats:italic> in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)–sensing OAS1 and OAS2 generate 2′-5′-linked oligoadenylates (2-5A) that activate the single-stranded RNA–degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L–deficient cells. Cytokine production in RNase L–deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS–RNase L deficiencies in these patients unleash the production of SARS-CoV-2–triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C. </jats:p>
収録刊行物
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- Science
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Science 379 (6632), eabo3627-, 2023-02-10
American Association for the Advancement of Science (AAAS)
- Tweet
キーワード
- Science::Medicine
- [SDV]Life Sciences [q-bio]
- 610
- Antibody Response
- Settore MED/03 - GENETICA MEDICA
- Endoribonucleases
- Medicine and Health Sciences
- Humans
- :Medicine [Science]
- Child
- Inborn errors, SARS-CoV-2, inflammatory syndrome, OAS-RNase L
- Children
- Research Articles
- RNA, Double-Stranded
- Inflammation
- Multidisciplinary
- SARS-CoV-2
- COVID-19
- 001
- Inflamació
- Systemic Inflammatory Response Syndrome
- Cytokines
- CoV-Contact Cohort§
- Infants
詳細情報 詳細情報について
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- CRID
- 1360865821074875520
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- ISSN
- 10959203
- 00368075
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- PubMed
- 36538032
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- データソース種別
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- Crossref
- OpenAIRE
