2022
Assessment of Clinical Effectiveness of BNT162b2 COVID-19 Vaccine in US Adolescents
Oliveira CR, Niccolai LM, Sheikha H, Elmansy L, Kalinich CC, Grubaugh ND, Shapiro ED, Billig K, Breban M, Brito A, Earnest R, Fauver J, Koch T, Ott I, Petrone M, Vogels C, Pham K, Tikhonova I, Castaldi C, Mane S, Bilguvar K, De Kumar B, Ferguson D, Kerantzas N, Landry M, Peaper D, Schulz W. Assessment of Clinical Effectiveness of BNT162b2 COVID-19 Vaccine in US Adolescents. JAMA Network Open 2022, 5: e220935. PMID: 35238933, PMCID: PMC8895259, DOI: 10.1001/jamanetworkopen.2022.0935.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionCase-control studyVaccine effectivenessBNT162b2 vaccineSARS-CoV-2Medical recordsAsymptomatic SARS-CoV-2 infectionBNT162b2 COVID-19 vaccineRetrospective case-control studyRT-PCR test resultsSARS-CoV-2 testUS adolescentsReverse transcription polymerase chain reaction testConditional logistic regression modelsTranscription polymerase chain reaction testDoses of vaccineControl participantsClinical trial populationsRelevant clinical dataCase participantsCOVID-19 vaccinePositive test resultsChain reaction testCounty of residenceNegative test results
2021
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths
Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Manry J, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen LB, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Megarbane B, Triantafyllia V, Fekkar A, Heath JR, Franco JL, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte OM, Zhang Y, Snow AL, Holland SM, Biggs C, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Coulibaly B, Anglicheau D, Planas AM, Haerynck F, Duvlis S, Nussbaum RL, Ozcelik T, Keles S, Bousfiha AA, Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarström Q, Hammarström L, Dupont A, Kurolap A, Metz CN, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros LA, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye SG, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann NY, Shcherbina A, Lau YL, Leung D, Coulongeat M, Marlet J, Koning R, Reyes LF, Chauvineau-Grenier A, Venet F, Monneret G, Nussenzweig MC, Arrestier R, Boudhabhay I, Baris-Feldman H, Hagin D, Wauters J, Meyts I, Dyer AH, Kennelly SP, Bourke NM, Halwani R, Sharif-Askari NS, Dorgham K, Sallette J, Sedkaoui S, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Ostrowski SR, Condino-Neto A, Prando C, Bonradenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Hospital J, Covid-19 A, Anderson M, Boisson B, Béziat V, Zhang S, Vandreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, Rowen L, Mond J, Debette S, de Lamballerie X, Duval X, Mentré F, Zins M, Soler-Palacin P, Colobran R, Gorochov G, Solanich X, Susen S, Martinez-Picado J, Raoult D, Vasse M, Gregersen P, Piemonti L, Rodríguez-Gallego C, Notarangelo L, Su H, Kisand K, Okada S, Puel A, Jouanguy E, Rice C, Tiberghien P, Zhang Q, Cobat A, Abel L, Casanova J, Bigio B, Boucherit S, de la Chapelle A, Chen J, Chrabieh M, Coulibaly B, Liu D, Nemirowskaya Y, Cruz I, Materna M, Pelet S, Seeleuthner Y, Thibault C, Liu Z, 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, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, Danielson J, Dobbs K, Kashyap A, Ding L, Dalgard C, Sottini A, Quaresima V, Quiros-Roldan E, Rossi C, Bettini L, D’Angio’ M, Beretta I, Montagna D, Licari A, Marseglia G, Batten I, Reddy C, McElheron M, Noonan C, Connolly E, Fallon A, Storgaard M, Jørgensen S, Tolstrup M, Erikstrup C, Pedersen O, Sørensen E, Mikkelsen S, Dinh K, Larsen M, Paulsen I, Von Stemann J, Hansen M, Ostrowski S, Townsend L, Cheallaigh C, Bergin C, Martin-Loeches I, Dunne J, Conlon N, Bourke N, O'Farrelly C, Abel L, Allavena C, Andrejak C, Angoulvant F, Azoulay C, Bachelet D, Bartoli M, Basmaci R, Behilill S, Beluze M, Benech N, Benkerrou D, Bhavsar K, Bitker L, Bouadma L, Bouscambert-Duchamp M, Paz P, Cervantes-Gonzalez M, Chair A, Chirouze C, Coelho A, Cordel H, Couffignal C, Couffin-Cadiergues S, d’Ortenzio E, De Montmollin E, Debard A, Debray M, Deplanque D, Descamps D, Desvallée M, Diallo A, Diehl J, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Epaulard O, Esperou H, Esposito-Farese M, Etienne M, Garot D, Gault N, Gaymard A, Ghosn J, Gigante T, Gilg M, Goehringer F, Guedj J, Hoctin A, Hoffmann I, Houas I, Hulot J, Jaafoura S, Kafif O, Kaguelidou F, Kali S, Kerroumi Y, Khalil A, Khan C, Kimmoun A, Laine F, Laouénan C, Laribi S, Le M, Le Bris C, Le Gac S, Le Hingrat Q, Le Mestre S, Le Nagard H, Lemaignen A, Lemee V, Lescure F, Letrou S, Levy Y, Lina B, Lingas G, Lucet J, Machado M, Malvy D, Mambert M, Manuel A, Mentré F, Meziane A, Mouquet H, Mullaert J, Neant N, Nguyen D, Noret M, Papadopoulos A, Paul C, Peiffer-Smadja N, Peigne V, Petrov-Sanchez V, Peytavin G, Pham H, Picone O, Piquard V, Poissy J, Puéchal O, 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, Annereau J, Briseño-Roa L, Gribouval O, Pelet A, Abel L, Alcover A, Aschard H, Bousso P, Bourke N, Brodin P, Bruhns P, Cerf-Bensussan N, Cumano A, D’Enfert C, Deriano L, Dillies M, Di Santo J, Dromer F, Eberl G, Enninga J, Fellay J, Gomperts-Boneca I, Hasan M, Hedestam G, Hercberg S, Ingersoll M, Lantz O, Kenny R, Ménager M, Michel F, Mouquet H, O'Farrelly C, Patin E, Pellegrini S, Rausell A, Rieux-Laucat F, Rogge L, Fontes M, Sakuntabhai A, Schwartz O, Schwikowski B, Shorte S, Tangy F, Toubert A, Touvier M, Ungeheuer M, Zimmer C, Albert M, Duffy D, Quintana-Murci L, 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, Geijtenbeek S, 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, 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, Nadif R, Goldberg M, Ozguler A, Henny J, Lemonnier S, Coeuret-Pellicer M, Le Got S, Zins M, Tzourio C, Debette S, Dufouil C, Soumaré A, Lachaize M, Fievet N, Flaig A, Martin F, Bonneaudeau B, Cannet D, Gallian P, Jeanne M, Perroquin M, Hamzeh-Cognasse H. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Science Immunology 2021, 6: eabl4340. PMID: 34413139, PMCID: PMC8521484, DOI: 10.1126/sciimmunol.abl4340.Peer-Reviewed Original ResearchConceptsCritical COVID-19Type I IFNDeceased patientsCOVID-19 casesI IFNUninfected individualsCritical COVID-19 pneumoniaFatal COVID-19 casesSARS-CoV-2 infectionCOVID-19Critical COVID-19 casesSevere COVID-19COVID-19 pneumoniaProportion of subjectsConcentration of IFNCOVID-19 deathsUninfected subjectsAsymptomatic infectionGeneral populationPatientsIFNAutoantibodiesHigh concentrationsInfectionSubjects
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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C, Lau Y, Ling Y, Lucas C, Maniatis T, Mansouri D, Marodi L, Meyts I, Milner J, Mironska K, Mogensen T, Morio T, Ng L, Notarangelo L, Novelli G, Novelli A, O'Farrelly C, Okada S, Ozcelik T, de Diego R, Planas A, Prando C, Pujol A, Quintana-Murci L, Renia L, Renieri A, Rodríguez-Gallego C, Sancho-Shimizu V, Sankaran V, Barrett K, Shahrooei M, Snow A, Soler-Palacín P, Spaan A, Tangye S, Turvey S, Uddin F, Uddin M, van de Beek D, Vazquez S, Vinh D, von Bernuth H, Washington N, Zawadzki P, Su H, Casanova J. 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 diseaseInfectionAutoantibodiesPneumonia
2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics 2017, 49: 1593-1601. PMID: 28991257, PMCID: PMC5675000, DOI: 10.1038/ng.3970.Peer-Reviewed Original ResearchMeSH KeywordsAdultAutistic DisorderCardiac MyosinsCase-Control StudiesChildExomeFemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGrowth Differentiation Factor 1Heart Defects, CongenitalHeterozygoteHigh-Throughput Nucleotide SequencingHomozygoteHumansMaleMutationMyosin Heavy ChainsPedigreeRiskVascular Endothelial Growth Factor Receptor-3
2015
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening
Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. Nature Genetics 2015, 47: 512-517. PMID: 25848748, PMCID: PMC4414891, DOI: 10.1038/ng.3278.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAmino Acid SequenceCase-Control StudiesCells, CulturedDNA HelicasesDNA Mutational AnalysisExomeExoribonucleasesFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHumansIdiopathic Pulmonary FibrosisLeukocytesLod ScoreMaleMiddle AgedMolecular Sequence DataPedigreeTelomereTelomere Shortening
2011
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Fernandez TV, Sanders SJ, Yurkiewicz IR, Ercan-Sencicek AG, Kim YS, Fishman DO, Raubeson MJ, Song Y, Yasuno K, Ho WS, Bilguvar K, Glessner J, Chu SH, Leckman JF, King RA, Gilbert DL, Heiman GA, Tischfield JA, Hoekstra PJ, Devlin B, Hakonarson H, Mane SM, Günel M, State MW. Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism. Biological Psychiatry 2011, 71: 392-402. PMID: 22169095, PMCID: PMC3282144, DOI: 10.1016/j.biopsych.2011.09.034.Peer-Reviewed Original ResearchConceptsCopy number variationsRare copy number variationsNovel risk regionsEnrichment of genesGamma-aminobutyric acid receptor genesNervous system developmentEtiology of TSParent-child triosRare copy number variantsCopy number variantsGene mappingPathway analysisDe novo eventsAxon guidanceCell adhesionMolecular pathwaysNumber variationsRelevant pathwaysCNV analysisNumber variantsGenesReceptor geneDe novoNovo eventsPathway