Scholarly Publications - Molecular Biology and Genetics

Permanent URI for this collectionhttps://hdl.handle.net/11693/115514

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Browsing Scholarly Publications - Molecular Biology and Genetics by Author "Abel, Laurent"

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    ItemOpen Access
    Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (Nature Immunology, (2022), 23, 2, (159-164), 10.1038/s41590-021-01030-z)
    (Springer Nature, 2022-02) Andreakos, Evangelos; Abel, Laurent; Vinh, Donald C.; Kaja, Elżbieta; Drolet, Beth A.; Zhang, Qian; O’Farrelly, Cliona; Novelli, Giuseppe; Rodríguez-Gallego, Carlos; Haerynck, Filomeen; Prando, Carolina; Pujol, Aurora; Bastard, Paul; Biggs, Catherine M.; Bigio, Benedetta; Boisson, Bertrand; Bolze, Alexandre; Bondarenko, Anastasiia; Brodin, Petter; Chakravorty, Samya; Christodoulou, John; Cobat, Aurelié; Condino-Neto, Antonio; Constantinescu, Stefan N.; Feldman, Hagit Baris; Fellay, Jacques; Halwani, Rabih; Jouanguy, Emmanuelle; Lau, Yu-Lung; Meyts, Isabelle; Mogensen, Trine H.; Okada, Satoshi; Okamoto, Keisuke; Özçelik, Tayfun; Pan-Hammarström, Qiang; Planas, Anna M.; Puel, Anne; Quintana-Murci, Lluis; Renia, Laurent; Resnick, Igor; Sediva, Anna; Shcherbina, Anna; Slaby, Ondrej; Tancevski, Ivan; Turvey, Stuart E.; Uddin, K. M. Furkan; van de Beek, Diederik; Zatz, Mayana; Zawadzki, Pawel; Zhang, Shen-Ying; Su, Helen C.; Casanova, Jean-Laurent; Spaan, András N.
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    Human genetic and immunological determinants of critical COVID-19 pneumonia
    (Springer Nature, 2022-03-24) Zhang, Qian; Bastard, Paul; Karbuz, Adem; Gervais, Adrian; Tayoun, Ahmad Abou; Aiuti, Alessandro; Belot, Alexandre; Bolze, Alexandre; Gaudet, Alexandre; Bondarenko, Anastasiia; Liu, Zhiyong; Spaan, András N.; Guennoun, Andrea; Arias, Andres Augusto; Planas, Anna M.; Sediva, Anna; Shcherbina, Anna; Neehus, Anna-Lena; Puel, Anne; Froidure, Antoine; Novelli, Antonio; Parlakay, Aslınur Özkaya; Pujol, Aurora; Yahşi, Aysun; Gülhan, Belgin; Bigio, Benedetta; Boisson, Bertrand; Drolet, Beth A.; Franco, Carlos Andres Arango; Flores, Carlos; Rodríguez-Gallego, Carlos; Prando, Carolina; Biggs, Catherine M.; Luyt, Charles-Edouard; Dalgard, Clifton L.; O’Farrelly, Cliona; Matuozzo, Daniela; Dalmau, David; Perlin, David S.; Mansouri, Davood; van de Beek, Diederik; Vinh, Donald C.; Dominguez-Garrido, Elena; Hsieh, Elena W. Y.; Erdeniz, Emine Hafize; Jouanguy, Emmanuelle; Şevketoglu, Esra; Talouarn, Estelle; Quiros-Roldan, Eugenia; Andreakos, Evangelos; Husebye, Eystein; Alsohime, Fahad; Haerynck, Filomeen; Casari, Giorgio; Novelli, Giuseppe; Aytekin, Gökhan; Morelle, Guillaume; Alkan, Gulsum; Bayhan, Gulsum Iclal; Feldman, Hagit Baris; Su, Helen C.; von Bernuth, Horst; Resnick, Igor; Bustos, Ingrid; Meyts, Isabelle; Migeotte, Isabelle; Tancevski, Ivan; Bustamante, Jacinta; Fellay, Jacques; El Baghdadi, Jamila; Martinez-Picado, Javier; Casanova, Jean-Laurent; Rosain, Jeremie; Manry, Jeremy; Chen, Jie; Christodoulou, John; Bohlen, Jonathan; Franco, José Luis; Li, Juan; Anaya, Juan Manuel; Rojas, Julian; Ye, Junqiang; Uddin, K. M. Furkan; Yasar, Kadriye Kart; Kisand, Kai; Okamoto, Keisuke; Chaïbi, Khalil; Mironska, Kristina; Maródi, László; Abel, Laurent; Renia, Laurent; Lorenzo, Lazaro; Hammarström, Lennart; Ng, Lisa F. P.; Quintana-Murci, Lluis; Erazo, Lucia Victoria; Notarangelo, Luigi D.; Reyes, Luis Felipe; Allende, Luis M.; Imberti, Luisa; Renkilaraj, Majistor Raj Luxman Maglorius; Moncada-Velez, Marcela; Materna, Marie; Anderson, Mark S.; Gut, Marta; Chbihi, Marwa; Ogishi, Masato; Emiroglu, Melike; Seppänen, Mikko R. J.; Uddin, Mohammed J.; Shahrooei, Mohammed; Alexander, Natalie; Hatipoglu, Nevin; Marr, Nico; Akçay, Nihal; Boyarchuk, Oksana; Slaby, Ondrej; Akcan, Ozge Metin; Zhang, Peng; Soler-Palacín, Pere; Gregersen, Peter K.; Brodin, Petter; Garçon, Pierre; Morange, Pierre-Emmanuel; Pan-Hammarström, Qiang; Zhou, Qinhua; Philippot, Quentin; Halwani, Rabih; de Diego, Rebeca Perez; Levy, Romain; Yang, Rui; Öz, Şadiye Kübra Tüter; Muhsen, Saleh Al; Kanık-Yüksek, Saliha; Espinosa-Padilla, Sara; Ramaswamy, Sathishkumar; Okada, Satoshi; Bozdemir, Sefika Elmas; Aytekin, Selma Erol; Karabela, Şemsi Nur; Keles, Sevgi; Senoglu, Sevtap; Zhang, Shen-Ying; Duvlis, Sotirija; Constantinescu, Stefan N.; Boisson-Dupuis, Stephanie; Turvey, Stuart E.; Tangye, Stuart G.; Asano, Takaki; Özcelik, Tayfun; Le Voyer, Tom; Maniatis, Tom; Morio, Tomohiro; Mogensen, Trine H.; Sancho-Shimizu, Vanessa; Beziat, Vivien; Solanich, Xavier; Bryceson, Yenan; Lau, Yu-Lung; Itan, Yuval; Cobat, Aurélie; Casanova, Jean-Laurent
    SARS-CoV-2 infection is benign in most individuals but, in around 10% of cases, it triggers hypoxaemic COVID-19 pneumonia, which leads to critical illness in around 3% of cases. The ensuing risk of death (approximately 1% across age and gender) doubles every five years from childhood onwards and is around 1.5 times greater in men than in women. Here we review the molecular and cellular determinants of critical COVID-19 pneumonia. Inborn errors of type I interferons (IFNs), including autosomal TLR3 and X-chromosome-linked TLR7 deficiencies, are found in around 1–5% of patients with critical pneumonia under 60 years old, and a lower proportion in older patients. Pre-existing auto-antibodies neutralizing IFNα, IFNβ and/or IFNω, which are more common in men than in women, are found in approximately 15–20% of patients with critical pneumonia over 70 years old, and a lower proportion in younger patients. Thus, at least 15% of cases of critical COVID-19 pneumonia can be explained. The TLR3- and TLR7-dependent production of type I IFNs by respiratory epithelial cells and plasmacytoid dendritic cells, respectively, is essential for host defence against SARS-CoV-2. In ways that can depend on age and sex, insufficient type I IFN immunity in the respiratory tract during the first few days of infection may account for the spread of the virus, leading to pulmonary and systemic inflammation. © 2022, Springer Nature Limited.
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    Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
    (Rockefeller University Press, 2022) Özçelik, Tayfun; Campbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura E.; Zhang, Peng; Darazam, Ilad Alavi; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Enoksson, Sara Lind; Jouanguy, Emmanuelle; Karabela, Şemsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Arias, Andres Augusto; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Pellier, Isabelle; Sendel, Anton; Shahrooei, Mohammad; Edvard Smith C.I.; Vandernoot, Isabelle; Willekens, Karen; Bergman, Peter; Abel, Laurent; Cobat, Aurélie; Casanova, Jean-Laurent; Meyts, Isabelle; Bryceson, Yenan T.
    Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients’ fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza-and SARS-CoV-2–specific memory CD4+ and CD8+ Tcells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity. © 2022 Campbell et al.
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    Studying severe long COVID to understand post-infectious disorders beyond COVID-19
    (Nature Publishing Group, 2022-05-01) Brodin, Petter; Casari, Giorgio; Townsend, Liam; O’Farrelly, Cliona; Tancevski, Ivan; Löffler-Ragg, Judith; Mogensen, Trine H.; Casanova, Jean Laurent; Abel, Laurent; Aiuti, Alessandro; Al-Muhsen, Saleh; Al-Mulla, Fahd; Anderson, Mark S.; Andreakos, Evangelos; Arias, Andrés A.; Feldman, HagitBaris; Belot, Alexandre; Biggs, Catherine M.; Bogunovic, Dusan; Bolze, Alexandre; Bondarenko, Anastasiia; Bousfiha, Ahmed A.; Bryceson, Yenan; Bustamante, Carlos D.; Butte, Manish J.; Christodoulou, John; Condino-Neto, Antonio; Constantinescu, Stefan N.; Cooper, Megan A.; Dalgard, Clifton L.; Desai, Murkesh; Drolet, Beth A.; Baghdadi, Jamila El; Espinosa-Padilla, Sara; Fellay, Jacques; Flores, Carlos; Franco, JoséLuis; Froidure, Antoine; Gregersen, Peter K.; Grimbacher, Bodo; Haerynck, Filomeen; Hagin, David; Halwani, Rabih; Hammarström, Lennart; Heath, James R.; Henrickson, Sarah E.; Hsieh, Elena W. Y.; Husebye, Eystein; Imai, Kohsuke; Itan, Yuval; Jarvis, Erich D.; Karamitros, Timokratis; Kisand, Kai; Ku, Cheng-Lung; Lau, Yu-Lung; Ling, Yun; Lucas, Carrie L.; Maniatis, Tom; Mansouri, Davood; Maródi, László; Meyts, Isabelle; Milner, Joshua D.; Mironska, Kristina; Morio, Tomohiro; Ng, Lisa F. P.; Novelli, Antonio; Novelli, Giuseppe; Okada, Satoshi; Okamoto, Keisuke; Ozcelik, Tayfun; Pan-Hammarström, Qiang; Pape, Jean W.; de Diego, Rebeca Perez; Perlin, David S.; Pesole, Graziano; Planas, Anna M.; Prando, Carolina; Pujol, Aurora; Quintana-Murci, Lluis; Ramaswamy, Sathishkumar; Renia, Laurent; Resnick, Igor; Rodríguez-Gallego, Carlos; Sancho-Shimizu, Vanessa; Sediva, Anna; Seppänen, Mikko R. J.; Shahrooei, Mohammed; Shcherbina, Anna; Slaby, Ondrej; Snow, Andrew L.; Soler-Palacín, Pere; Spaan, András N.; Tangye, Stuart G.; Tayoun, Ahmad Abou; Turvey, Stuart E.; Uddin, K. M. Furkan; Uddin, Mohammed J.; vande Beek, Diederik; Vinh, Donald C.; von Bernuth, Horst; Wauters, Joost; Zatz, Mayana; Zawadzki, Pawel; Casanova, Jean-Laurent