2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Renkilaraj M, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego R, Keles S, Aytekin G, Akcan O, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL, Bustamante J, Puel A, Boisson-Dupuis S, Zhang S, Béziat V, Lifton R, Bastard P, Notarangelo L, Abel L, Su H, Jouanguy E, Amara A, Soumelis V, Cobat A, Zhang Q, Casanova J, Abel L, Aiuti A, Al-Muhsen S, Al-Mulla F, Anderson M, Andreakos E, Arias A, Feldman H, Belot A, Biggs C, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Condino-Neto A, Constantinescu S, Cooper M, Dalgard C, Desai M, Drolet B, Baghdadi J, Espinosa-Padilla S, Fellay J, Flores C, Franco J, Froidure A, Gregersen P, Haerynck F, Hagin D, Halwani R, Hammarström L, Heath J, Henrickson S, Hsieh E, Husebye E, Imai K, Itan Y, Jarvis E, Karamitros T, Kisand K, Ku C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Maródi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli A, Novelli G, O'Farrelly C, Okada S, Ozcelik T, Pan-Hammarström Q, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Resnick I, Rodríguez-Gallego C, Sancho-Shimizu V, Sediva A, Seppänen M, Shahrooei M, Shcherbina A, Slaby O, Snow A, Soler-Palacín P, Spaan A, Tancevski I, Tangye S, Tayoun A, Ramaswamy S, Turvey S, Uddin K, Uddin M, van de Beek D, Vinh D, von Bernuth H, Zatz M, Zawadzki P, Su H, Casanova J, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Abad J, Accordino G, Achille C, Aguilera-Albesa S, Aguiló-Cucurull A, Aiuti A, Özkan E, Darazam I, Albisures J, Aldave J, Ramos M, Khan T, Aliberti A, Nadji S, Alkan G, AlKhater S, Allardet-Servent J, Allende L, Alonso-Arias R, Alshahrani M, Alsina L, Alyanakian M, Borrero B, Amoura Z, Antolí A, Arrestier R, Aubart M, Auguet T, Avramenko I, Aytekin G, Azot A, Bahram S, Bajolle F, Baldanti F, Baldolli A, Ballester M, Feldman H, Barrou B, Barzagh F, Basso S, Bayhan G, Belot A, Bezrodnik L, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blázquez-Gamero D, Bleibtreu A, Bloomfield M, Bolivar-Prados M, Bondarenko A, Borghesi A, Borie R, Botdhlo-Nevers E, Bousfiha A, Bousquet A, Boutolleau D, Bouvattier C, Boyarchuk O, Bravais J, Briones M, Brunner M, Bruno R, Bueno M, Bukhari H, Bustamante J, Agra J, Capra R, Carapito R, Carrabba M, Casari G, Casasnovas C, Caseris M, Cassaniti I, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Celik J, Ceschi A, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Cohen Y, Colobran R, Comarmond C, Combes A, Comoli P, Corsico A, Coşkuner T, Cvetkovski A, Cyrus C, Dalmau D, Danion F, Darley D, Das V, Dauby N, Dauger S, De Munter P, de Pontual L, Dehban A, Delplancq G, Demoule A, Desguerre I, Di Sabatino A, Diehl J, Dobbelaere S, Domínguez-Garrido E, Dubost C, Ekwall O, Bozdemir Ş, Elnagdy M, Emiroglu M, Endo A, Erdeniz E, Aytekin S, Lasa M, Euvrard R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Ferrer R, Ferreres J, Flores C, Francois B, Fumadó V, Fung K, Fusco F, Gagro A, Solis B, Gaussem P, Gayretli Z, Gil-Herrera J, Gilardin L, Gatineau A, Girona-Alarcón M, Godínez K, Goffard J, Gonzales N, Gonzalez-Granado L, González-Montelongo R, Guerder A, Gülhan B, Gumucio V, Hanitsch L, Gunst J, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hancerli S, Hariyan T, Hatipoglu N, Heppekcan D, Hernandez-Brito E, Ho P, Holanda-Peña M, Horcajada J, Hraiech S, Humbert L, Hung I, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jimeno M, Jordan I, Yüksek S, Kara Y, Karahan A, Karbuz A, Yasar K, Kasapcopur O, Kashimada K, Keles S, Demirkol Y, Kido Y, Kizil C, Kılıç A, Klocperk A, Koutsoukou A, Król Z, Ksouri H, Kuentz P, Kwan A, Kwan Y, Kwok J, Lagier J, Lam D, Lampropoulou V, Lanternier F, LAU Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Lilleri D, Lima E, Linglart A, López-Collazo E, Lorenzo-Salazar J, Louapre C, Lubetzki C, Lung K, Luyt C, Lye D, Magnone C, Mansouri D, Marchioni E, Marioli C, Marjani M, Marques L, Pereira J, Martín-Nalda A, Pueyo D, Martinez-Picado J, Marzana I, Mata-Martínez C, Mathian A, Matos L, Matthews G, Mayaux J, McLaughlin-Garcia R, Meersseman P, Mège J, Mekontso-Dessap A, Melki I, Meloni F, Meritet J, Merlani P, Akcan Ö, Meyts I, Mezidi M, Migeotte I, Millereux M, Million M, Mirault T, Mircher C, Mirsaeidi M, Mizoguchi Y, Modi B, Mojoli F, Moncomble E, Melián A, Martinez A, Morandeira F, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Nafati C, Nagashima S, Nakagama Y, Neven B, Neves J, Ng L, Ng Y, Nielly H, Medina Y, Cuadros E, Ocejo-Vinyals J, Okamoto K, Oualha M, Ouedrani A, Özçelik T, Ozkaya-Parlakay A, Pagani M, Pan-Hammarström Q, Papadaki M, Parizot C, Parola P, Pascreau T, Paul S, Paz-Artal E, Pedraza S, Pellecer N, Pellegrini S, de Diego R, Pérez-Fernández X, Philippe A, Philippot Q, Picod A, de Chambrun M, Piralla A, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Poulakou G, Pouletty M, Pourshahnazari P, Qiu-Chen J, Quentric P, Rambaud T, Raoult D, Raoult V, Rebillat A, Redin C, Resmini L, Ricart P, Richard J, Rigo-Bonnin R, Rivet N, Rivière J, Rocamora-Blanch G, Rodero M, Rodrigo C, Rodriguez L, Rodriguez-Gallego C, Rodriguez-Palmero A, Romero C, Rothenbuhler A, Roux D, Rovina N, Rozenberg F, Ruch Y, Ruiz M, del Prado M, Ruiz-Rodriguez J, Sabater-Riera J, Saks K, Salagianni M, Sanchez O, Sánchez-Montalvá A, Sánchez-Ramón S, Schidlowski L, Schluter A, Schmidt J, Schmidt M, Schuetz C, Schweitzer C, Scolari F, Sediva A, Seijo L, Seminario A, Sene D, Seng P, Senoglu S, Seppänen M, Llovich A, Shahrooei M, Shcherbina A, Siguret V, Siouti E, Smadja D, Smith N, Sobh A, Solanich X, Solé-Violán J, Soler C, Soler-Palacín P, Sözeri B, Stella G, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Tello L, Terrier B, Thiery G, Thorball C, Thorn K, Thumerelle C, Tipu I, Tolstrup M, Tomasoni G, Toubiana J, Alvarez J, Triantafyllia V, Trouillet-Assant S, Troya J, Tsang O, Tserel L, Tso E, Tucci A, Öz Ş, Ursini M, Utsumi T, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Den Rym A, Vandernoot I, Velez-Santamaria V, Veliz S, Vidigal M, Viel S, Vilain C, Vilaire-Meunier M, Villar-García J, Vincent A, Vogt G, Voiriot G, Volokha A, Vuotto F, Wauters E, Wauters J, Wu A, Wu T, Yahşi A, Yesilbas O, Yildiz M, Young B, Yükselmiş U, Zatz M, Zecca M, Zuccaro V, Jens V, Lambrecht B, Eva V, Cédric B, Levi H, Eric H, Bauters F, De Clercq J, Cathérine H, Hans S, Leslie N, Florkin B, Boulanger C, Vanderlinden D, Annereau J, Briseño-Roa L, Gribouval O, Pelet A, Abel L, Andrejak C, Angoulvant F, Bachelet D, Bartoli M, Basmaci R, Behilill S, Beluze M, Benkerrou D, Bhavsar K, Bouadma L, Bouchez S, Bouscambert M, Cervantes-Gonzalez M, Chair A, Chirouze C, Coelho A, Couffignal C, Couffin-Cadiergues S, d’Ortenzio E, Debray M, Deconinck L, Deplanque D, Descamps D, Desvallée M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Elharrar B, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Devouge E, Gault N, Gaymard A, Ghosn J, Gigante T, Gilg M, Guedj J, Hoctin A, Hoffmann I, Houas I, Hulot J, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Khalil A, Khan C, Laouénan C, Laribi S, Le M, Le Hingrat Q, Le Mestre S, Le Nagard H, Lescure F, Letrou S, Levy Y, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Meziane A, Mouquet H, Mullaert J, Neant N, Nguyen D, Noret M, Nseir S, Papadopoulos A, Paul C, Peiffer-Smadja N, Perpoint T, Petrov-Sanchez V, Peytavin G, Pham H, Picone O, Piquard V, Puéchal O, Rabaud C, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Su R, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Tual C, Tubiana S, Van Der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, Gérardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefévre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Kouakam C, Leturque N, Roufai L, Amat K, Couffin-Cadiergues S, Espérou H, Hendou S, van Agtmael M, Algera A, Appelman B, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bonta P, Bos L, Botta M, de Brabander J, de Bree G, de Bruin S, Buis D, Bugiani M, Bulle E, Chouchane O, Cloherty A, Dijkstra M, Dongelmans D, Dujardin R, Elbers P, Fleuren L, Geerlings S, Geijtenbeek T, Girbes A, Goorhuis B, Grobusch M, Hafkamp F, Hagens L, Hamann J, Harris V, Hemke R, Hermans S, Heunks L, Hollmann M, Horn J, Hovius J, de Jong M, Koning R, Lim E, van Mourik N, Nellen J, Nossent E, Paulus F, Peters E, Pina-Fuentes D, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, de Rotte M, Schinkel M, Schultz M, Schrauwen F, Schuurmans A, Schuurmans J, Sigaloff K, Slim M, Smeele P, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, Tuinman P, van der Valk M, Veelo D, Volleman C, de Vries H, Vught L, van Vugt M, Wouters D, Zwinderman A, Brouwer M, Wiersinga W, Vlaar A, van de Beek D, Tompkins M, Alba C, Snow A, Hupalo D, Rosenberger J, Sukumar G, Wilkerson M, Zhang X, Lack J, Oler A, Dobbs K, Delmonte O, Danielson J, Biondi A, Bettini L, D’Angio M, Beretta I, Imberti L, Sottini A, Quaresima V, Quiros-Roldan E, Rossi C. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Science Immunology 2021, 6: eabl4348. PMID: 34413140, PMCID: PMC8532080, DOI: 10.1126/sciimmunol.abl4348.Peer-Reviewed Original ResearchConceptsCOVID-19 pneumoniaBlood plasmacytoid dendritic cellsCritical COVID-19 pneumoniaSARS-CoV-2Male patientsTLR7 deficiencySevere COVID-19 pneumoniaLife-threatening COVID-19COVID-19 pneumonia casesProtective type IPlasmacytoid dendritic cellsMyeloid cell subsetsMale general populationType I IFNType IMale individualsCritical pneumoniaDendritic cellsCell subsetsTLR7 stimulationPneumonia casesRespiratory tractB cell linesMild infectionIndex case
2020
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Bastard P, Rosen LB, Zhang Q, Michailidis E, Hoffmann HH, Zhang Y, Dorgham K, Philippot Q, Rosain J, Béziat V, Manry J, Shaw E, Haljasmägi L, Peterson P, Lorenzo L, Bizien L, Trouillet-Assant S, Dobbs K, de Jesus AA, Belot A, Kallaste A, Catherinot E, Tandjaoui-Lambiotte Y, Le Pen J, Kerner G, Bigio B, Seeleuthner Y, Yang R, Bolze A, Spaan AN, Delmonte OM, Abers MS, Aiuti A, Casari G, Lampasona V, Piemonti L, Ciceri F, Bilguvar K, Lifton RP, Vasse M, Smadja DM, Migaud M, Hadjadj J, Terrier B, Duffy D, Quintana-Murci L, van de Beek D, Roussel L, Vinh DC, Tangye SG, Haerynck F, Dalmau D, Martinez-Picado J, Brodin P, Nussenzweig MC, Boisson-Dupuis S, Rodríguez-Gallego C, Vogt G, Mogensen TH, Oler AJ, Gu J, Burbelo PD, Cohen JI, Biondi A, Bettini LR, D'Angio M, Bonfanti P, Rossignol P, Mayaux J, Rieux-Laucat F, Husebye ES, Fusco F, Ursini MV, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Castagnoli R, Montagna D, Licari A, Marseglia GL, Duval X, Ghosn J, Tsang J, Goldbach-Mansky R, Kisand K, Lionakis M, Puel A, Zhang S, Holland S, Gorochov G, Jouanguy E, Rice C, Cobat A, Notarangelo L, Abel L, Su H, Casanova J, Arias A, Boisson B, Boucherit S, Bustamante J, Chbihi M, Chen J, Chrabieh M, Kochetkov T, Le Voyer T, Liu D, Nemirovskaya Y, Ogishi M, Papandrea D, Patissier C, Rapaport F, Roynard M, Vladikine N, Woollett M, Zhang P, Kashyap A, Ding L, Bosticardo M, Wang Q, Ochoa S, Liu H, Chauvin S, Stack M, Koroleva G, Bansal N, Dalgard C, Snow A, Abad J, Aguilera-Albesa S, Akcan O, Darazam I, Aldave J, Ramos M, Nadji S, Alkan G, Allardet-Servent J, Allende L, Alsina L, Alyanakian M, Amador-Borrero B, Amoura Z, Antolí A, Arslan S, Assant S, Auguet T, Azot A, Bajolle F, Baldolli A, Ballester M, Feldman H, Barrou B, Beurton A, Bilbao A, Blanchard-Rohner G, Blanco I, Blandinières A, Blazquez-Gamero D, Bloomfield M, Bolivar-Prados M, Borie R, Bousfiha A, Bouvattier C, Boyarchuk O, Bueno M, Bustamante J, Cáceres Agra J, Calimli S, Capra R, Carrabba M, Casasnovas C, Caseris M, Castelle M, Castelli F, de Vera M, Castro M, Catherinot E, Chalumeau M, Charbit B, Cheng M, Clavé P, Clotet B, Codina A, Colkesen F, Colkesen F, Colobran R, Comarmond C, Corsico A, Dalmau D, Darley D, Dauby N, Dauger S, de Pontual L, Dehban A, Delplancq G, Demoule A, Di Sabatino A, Diehl J, Dobbelaere S, Durand S, Eldars W, Elgamal M, Elnagdy M, Emiroglu M, Erdeniz E, Aytekin S, Euvrard R, Evcen R, Fabio G, Faivre L, Falck A, Fartoukh M, Faure M, Arquero M, Flores C, Francois B, Fumadó V, Fusco F, Solis B, Gaussem P, Gil-Herrera J, Gilardin L, Alarcon M, Girona-Alarcón M, Goffard J, Gok F, González-Montelongo R, Guerder A, Gul Y, Guner S, Gut M, Hadjadj J, Haerynck F, Halwani R, Hammarström L, Hatipoglu N, Hernandez-Brito E, Holanda-Peña M, Horcajada J, Hraiech S, Humbert L, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jordan I, Kanat F, Kapakli H, Kara I, Karbuz A, Yasar K, Keles S, Demirkol Y, Klocperk A, Król Z, Kuentz P, Kwan Y, Lagier J, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Linglart A, Lorenzo-Salazar J, Louapre C, Lubetzki C, Luyt C, Lye D, Mansouri D, Marjani M, Pereira J, Martin A, Pueyo D, Martinez-Picado J, Marzana I, Mathian A, Matos L, Matthews G, Mayaux J, Mège J, Melki I, Meritet J, Metin O, Meyts I, Mezidi M, Migeotte I, Millereux M, Mirault T, Mircher C, Mirsaeidi M, Melián A, Martinez A, Morange P, Mordacq C, Morelle G, Mouly S, Muñoz-Barrera A, Nafati C, Neves J, Ng L, Medina Y, Cuadros E, Ocejo-Vinyals J, Orbak Z, Oualha M, Özçelik T, Hammarström Q, Parizot C, Pascreau T, Paz-Artal E, de Diego R, Philippe A, Philippot Q, Planas-Serra L, Ploin D, Poissy J, Poncelet G, Pouletty M, Quentric P, Raoult D, Rebillat A, Reisli I, Ricart P, Richard J, Rivet N, Rivière J, Blanch G, Rodrigo C, Rodriguez-Gallego C, Rodríguez-Palmero A, Romero C, Rothenbuhler A, Rozenberg F, Ruiz del Prado M, Riera J, Sanchez O, Sánchez-Ramón S, Schluter A, Schmidt M, Schweitzer C, Scolari F, Sediva A, 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Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science 2020, 370: eabd4585. PMID: 32972996, PMCID: PMC7857397, DOI: 10.1126/science.abd4585.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionType I IFNI IFNAcute respiratory syndrome coronavirus 2 infectionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infectionLife-threatening COVID-19 pneumoniaMild SARS-CoV-2 infectionSyndrome coronavirus 2 infectionCoronavirus disease 2019 (COVID-19) pneumoniaLife-threatening COVID-19Coronavirus 2 infectionCOVID-19 pneumoniaImmunoglobulin G autoantibodiesType I IFNsTypes of IFNI IFNsHealthy individualsClinical variabilityPatientsInborn errorsIFNCritical diseaseInfectionAutoantibodiesPneumoniaInborn errors of type I IFN immunity in patients with life-threatening COVID-19
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science 2020, 370: eabd4570. PMID: 32972995, PMCID: PMC7857407, DOI: 10.1126/science.abd4570.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAllelesAsymptomatic InfectionsBetacoronavirusChildChild, PreschoolCoronavirus InfectionsCOVID-19FemaleGenetic LociGenetic Predisposition to DiseaseHumansInfantInterferon Regulatory Factor-7Interferon Type ILoss of Function MutationMaleMiddle AgedPandemicsPneumonia, ViralReceptor, Interferon alpha-betaSARS-CoV-2Toll-Like Receptor 3Young AdultConceptsLife-threatening COVID-19 pneumoniaCOVID-19 pneumoniaSevere acute respiratory syndrome coronavirus 2Type I interferon immunityAcute respiratory syndrome coronavirus 2Life-threatening COVID-19Respiratory syndrome coronavirus 2Toll-like receptor 3Inborn errorsSyndrome coronavirus 2Coronavirus disease 2019Interferon regulatory factor 7Years of ageAutosomal-dominant deficiencySARS-CoV-2Rare variantsRegulatory factor 7Patients 17Clinical outcomesCoronavirus 2Silent infectionSevere infectionsDisease 2019Benign infectionReceptor 3