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Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

Title:	Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency
Authors:	Campbell, Tessa Mollie; Liu, Zhiyong; Zhang, Qian; Moncada-Velez, Marcela; Covill, Laura, E; Zhang, Peng; Alavi Darazam, Ilad; Bastard, Paul; Bizien, Lucy; Bucciol, Giorgia; Lind Enoksson, Sara; Jouanguy, Emmanuelle; Karabela, Şemsi Nur; Khan, Taushif; Kendir-Demirkol, Yasemin; Arias, Andres Augusto; Mansouri, Davood; Marits, Per; Marr, Nico; Migeotte, Isabelle; Moens, Leen; Ozcelik, Tayfun; Pellier, Isabelle; Sendel, Anton; Şenoğlu, Sevtap; Shahrooei, Mohammad; Smith, C.I. Edvard; Vandernoot, Isabelle; Willekens, Karen; Kart Yaşar, Kadriye; Bergman, Peter; Abel, Laurent; Cobat, Aurélie; Casanova, Jean-Laurent; Meyts, Isabelle; Bryceson, Yenan, T
Contributors:	Karolinska Institutet = Karolinska Institute Stockholm; Rockefeller University New York; Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163); Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité); Hôpital Necker - Enfants Malades AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); Shahid Beheshti University of Medical Sciences Tehran (SBUMS); Department of Microbiology, Immunology and Transplantation Leuven; Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven); Universitair Ziekenhuis Leuven = University Hospital of Leuven = Hopital universitaire de Louvain (UZ Leuven); Karolinska University Hospital Stockholm; University of Health Sciences Istanbul, Turkey; Sidra Medicine Doha, Qatar; Universidad de Antioquia = University of Antioquia Medellín, Colombia; Université libre de Bruxelles = Free University of Brussels (ULB); Hôpital Erasme = Erasmus Hospital = Erasmus Ziekenhuis (HUB-ULB); Bilkent University Ankara; Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes-Angers (CRCI2NA); Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE); Nantes Université - pôle Santé; Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé; Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ); Centre Hospitalier Universitaire d'Angers (CHU Angers); Specialized Immunology Laboratory of Dr Shahrooei, Ahvaz, Iran; Howard Hughes Medical Institute Boston (HHMI); Howard Hughes Medical Institute (HHMI)-Harvard Medical School Boston (HMS); University of Bergen (UiB); COVID Human Genetic Effort: Laurent Abel, Alessandro Aiuti, Saleh Al-Muhsen, Fahd Al-Mulla, Mark S Anderson, Evangelos Andreakos, Andrés A Arias, Hagit Baris Feldman, Alexandre Belot, Catherine M Biggs, Dusan Bogunovic, Alexandre Bolze, Anastasiia Bondarenko, Ahmed A Bousfiha, Petter Brodin, Yenan Bryceson, Carlos D Bustamante, Manish J Butte, Giorgio Casari, John Christodoulou, Antonio Condino-Neto, Stefan N Constantinescu, Megan A Cooper, Clifton L Dalgard, Murkesh Desai, Beth A Drolet, Jamila El Baghdadi, Sara Espinosa-Padilla, Jacques Fellay, Carlos Flores, José Luis Franco, Antoine Froidure, Peter K Gregersen, Bodo Grimbacher, Filomeen Haerynck, David Hagin, Rabih Halwani, Lennart Hammarström, James R Heath, Sarah E Henrickson, Elena W Y Hsieh, Eystein Husebye, Kohsuke Imai, Yuval Itan, Erich D Jarvis, Timokratis Karamitros, Kai Kisand, Cheng-Lung Ku, Yu-Lung Lau, Yun Ling, Carrie L Lucas, Tom Maniatis, Davood Mansouri, László Maródi, Isabelle Meyts, Joshua D Milner, Kristina Mironska, Trine H Mogensen, Tomohiro Morio, Lisa F P Ng, Luigi D Notarangelo, Antonio Novelli, Giuseppe Novelli, Cliona O'Farrelly, Satoshi Okada, Keisuke Okamoto, Tayfun Ozcelik, Qiang Pan-Hammarström, Maria Papadaki, Jean W Pape, Rebeca Perez de Diego, David S Perlin, Graziano Pesole, Anna M Planas, Carolina Prando, Aurora Pujol, Lluis Quintana-Murci, Sathishkumar Ramaswamy, Laurent Renia, Igor Resnick, Carlos Rodríguez-Gallego, Vanessa Sancho-Shimizu, Anna Sediva, Mikko R J Seppänen, Mohammed Shahrooei, Anna Shcherbina, Ondrej Slaby, Andrew L Snow, Pere Soler-Palacín, András N Spaan, Ivan Tancevski, Stuart G Tangye, Ahmad Abou Tayoun, Stuart E Turvey, K M Furkan Uddin, Mohammed J Uddin, Diederik van de Beek, Donald C Vinh, Horst von Bernuth, Joost Wauters, Mayana Zatz, Pawel Zawadzki, Helen C Su, Jean-Laurent Casanova; ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020); ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020); ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021)
Source:	ISSN: 0022-1007.
Publisher Information:	CCSD; Rockefeller University Press
Publication Year:	2022
Subject Terms:	[SDV]Life Sciences [q-bio]
Description:	International audience ; 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+ T cells. 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.
Document Type:	article in journal/newspaper
Language:	English
Relation:	info:eu-repo/semantics/altIdentifier/pmid/35670811; PUBMED: 35670811; PUBMEDCENTRAL: PMC9178406
DOI:	10.1084/jem.20220202
Availability:	https://hal.science/hal-04766954; https://hal.science/hal-04766954v1/document; https://hal.science/hal-04766954v1/file/JEM_20220202.pdf; https://doi.org/10.1084/jem.20220202
Rights:	https://about.hal.science/hal-authorisation-v1/ ; info:eu-repo/semantics/OpenAccess
Accession Number:	edsbas.2339103E
Database:	BASE