Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Autor: Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Abou Tayoun, A, Aiuti, A, Alavi Darazam, I, Allende, Lm, Alonso-Arias, R, Arias, Aa, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, Yt, Bustos, Ig, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaïbi, K, Colobran, R, Condino-Neto, A, Covill, Le, Delmonte, Om, El Zein, L, Flores, C, Gregersen, Pk, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarström, L, Hatipoğlu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, Jl, Mansouri, D, Martinez-Picado, J, Metin Akcan, O, Migeotte, I, Morange, P, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarström, Q, de Diego, Rp, Planas-Serra, L, Pleguezuelo, De, Prando, C, Pujol, A, Reyes, Lf, Rivière, Jg, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schlüter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, Sz, Alosaimi, Mf, Alsohime, Fm, Baris-Feldman, H, Butte, Mj, Constantinescu, Sn, Cooper, Ma, Dalgard, Cl, Fellay, J, Heath, Jr, Lau, Y, Lifton, Rp, Maniatis, T, Mogensen, Th, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, J, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Meyts, I, Zhang, S, Puel, A, Notarangelo, Ld, Boisson-Dupuis, S, Helen C, S, Boisson, B, Jouanguy, E, Casanova, J, Zhang, Q, Abel, L, Cobat, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3667::ba3a452488014aee95b3aabc0ddbbf61
https://hdl.handle.net/2108/321965

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SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Autor: Chan YH; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA., Lundberg V; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Le Pen J; Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA., Yuan J; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research , New York, NY, USA., Lee D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Pinci F; Human Technopole, Viale Rita Levi-Montalcini , Milan, Italy., Volpi S; Rheumatology and Autoinflammatory Diseases, IRCCS Giannina Gaslini Institute, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Nakajima K; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA., Bondet V; Translational Immunology Unit, Institut Pasteur, Paris City University , Paris, France., Åkesson S; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Khobrekar NV; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research , New York, NY, USA., Bodansky A; Department of Pediatrics, Division of Critical Care, University of California San Francisco, San Francisco, CA, USA., Du L; Department of Medical Biochemistry and Biophysics, Division of Immunology, Karolinska Institutet, Stockholm, Sweden., Melander T; Department of Pediatrics, Härnösand Hospital, Region Västernorrland, Sundsvall, Sweden., Mariaggi AA; Laboratory of Virology, Assistance Publique-Hôpitaux de Paris (AP-HP), Cochin Hospital , Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Saleh TS; Department of Pediatric Dentistry, Sundsvall, Region Västernorrland, Sundsvall, Sweden., Chakravarty D; Weill Institute for Neurosciences, University of California, San Francisco , San Francisco, CA, USA.; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Marits P; Department of Medicine, Huddinge, Hematology Unit, Therapeutic Immunology and Transfusion, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Dobbs K; Division of Intramural Research, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Vonlanthen S; Department of Medicine, Huddinge, Hematology Unit, Therapeutic Immunology and Transfusion, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden., Hennings V; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Thörn K; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA., Sobh A; Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt., Özçelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Keles S; Necmettin Erbakan University , Konya, Turkey., AlKhater SA; College of Medicine, Imam Abdulrahman Bin Faisal University , Dammam, Saudi Arabia.; Department of Pediatrics, King Fahad University Hospital, Al-Khobar, Saudi Arabia., Prando C; Faculty of Pequeno Príncipe, Pesquisa Pelé Pequeno Príncipe Institute , Curitiba, Brazil., Meyts I; Department of Pediatrics, University Hospitals Leuven, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Wilson MR; Weill Institute for Neurosciences, University of California, San Francisco , San Francisco, CA, USA.; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA., Rosain J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Aubart M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France.; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark., Pan-Hammarström Q; Department of Medical Biochemistry and Biophysics, Division of Immunology, Karolinska Institutet, Stockholm, Sweden., Gao D; Division of Life Science and Medicine, Department of General Surgery, The First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China.; Division of Life Sciences and Medicine, Institute of Immunology and the CAS Key Laboratory of Innate Immunity and Chronic Disease, University of Science and Technology of China, Hefei, China., Duffy D; Translational Immunology Unit, Institut Pasteur, Paris City University , Paris, France., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France., Berg S; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Notarangelo LD; Division of Intramural Research, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Harschnitz O; Human Technopole, Viale Rita Levi-Montalcini , Milan, Italy., Rice CM; Laboratory of Virology and Infectious Disease, The Rockefeller University, New York, NY, USA., Studer L; The Center for Stem Cell Biology, Sloan Kettering Institute for Cancer Research , New York, NY, USA., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute , New York, NY, USA., Ekwall O; Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden., Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University , New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Paris, France.; Paris City University, Imagine Institute , Paris, France.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Sep 02; Vol. 221 (9). Date of Electronic Publication: 2024 Jul 18.