2022
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, 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, Mégarbane 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 CM, Moncada-Vélez M, Arias AA, Lorenzo L, Boucherit S, Anglicheau D, Planas AM, Haerynck F, Duvlis S, 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 FS, Dorgham K, Sallette J, Sedkaoui SM, AlKhater S, Rigo-Bonnin R, Morandeira F, Roussel L, Vinh DC, Erikstrup C, Condino-Neto A, Prando C, Bondarenko A, Spaan AN, Gilardin L, Fellay J, Lyonnet S, Bilguvar K, Lifton RP, Mane S, Lab H, Clinicians C, Clinicians C, Group N, Group N, Danish C, Study D, St. James's Hospital S, Group F, COVID-Group I, Consortium T, Cohort C, Investigators A, Effort C, Group C, cohort C, Study 3, Health-Care C, du Sang Study group E, Anderson M, Boisson B, Béziat V, Zhang S, Andreakos E, Hermine O, Pujol A, Peterson P, Mogensen T, Rowen L, Mond J, Debette S, de Lamballerie X, Burdet C, Bouadma L, 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, Casanova J, Abel L, Cobat A, Zhang P, Seeleuthner Y, Talouarn E, Marchal A, Matuozzo D, de la Chapelle A, Chen J, Chrabieh M, Liu D, Nemirowskaya Y, Cruz I, Materna M, Pelet S, 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, Barzaghi 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, 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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-Sánchez S, Gálvez-Romero J, 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, Vidaur L, Terrier B, Thiery G, Thorball C, Thorn K, Thumerelle C, Tipu I, Tolstrup M, Tomasoni G, Toubiana J, Alvarez J, 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, Villain 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, Ghirardello S, Zuccaro V, de Andrés A, Van Praet J, Lambrecht B, Van Braeckel E, Bosteels C, Hoste L, Hoste E, Bauters F, De Clercq J, Heijmans C, Slabbynck H, Naesens L, 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, Behillill 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-Farase 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, Jaïs J, 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, Bourgeon M, Lefèvre 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, Schuurman 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, Perez-Tur J, Arkin L, Asano T, Oriol R, 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, Grimbacher B, Okamoto K, Pape J, Perlin D, Pesole G, Wauters J, Su H, Casanova J, García P, López G, Rojas-Villaraga A, Vélez V, Landinez L, Correales L, Gómez O, Guaqueta J, Pérez C, Carrillo J, Vergara J, Landinez S, Mantilla R, Yepes J, Ricaurte O, Pérez-Díaz C, Mateus Y, Navarro L, Rodríguez Y, Acosta-Ampudia Y, Monsalve D, Rojas M, 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, Cognasse F, Cannet D, Gallian P, Jeanne M, Morel P, Perroquin M, Richard P, Tiberghien P, Hamzeh-Cognasse H. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 119: e2200413119. PMID: 35576468, PMCID: PMC9173764, DOI: 10.1073/pnas.2200413119.Peer-Reviewed Original Research
2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. American Journal Of Human Genetics 2021, 108: 2006-2016. PMID: 34626583, PMCID: PMC8546233, DOI: 10.1016/j.ajhg.2021.08.003.Peer-Reviewed Original ResearchConceptsSensorineural hearing lossCerebral palsyHearing lossBi-allelic variantsInner earRodent inner earDevelopmental delay/intellectual disabilityThin corpus callosumGlial cell nucleiIntellectual disabilityRat hippocampal neuronsWhite matter volumeNeurosensory hair cellsPeriventricular leukomalaciaQuantitative volumetryCerebral volumeCorpus callosumHippocampal neuronsMatter volumeReceptor functionBrain imagingHair cellsProminent expressionNeurodevelopmental phenotypesAffected individualsAutoantibodies 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, 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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 concentrationsInfectionSubjectsX-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19
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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, 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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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Cloherty A, Elbers P, Fleuren L, Geerlings S, Geerts B, 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, van Mourik N, Nellen J, Paulus F, Peters E, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, Schinkel M, Schultz M, Schuurman A, Sigaloff K, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, van der Valk M, Veelo D, Vlaar A, de Vries H, van Vugt M, Wiersinga W, Wouters D, Zwinderman A, van de Beek D, Abel L, Aiuti A, Al Muhsen S, Al-Mulla F, Anderson M, Arias A, Feldman H, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Cirulli E, Condino-Neto A, Cooper M, Dalgard C, DeRisi J, Desai M, Drolet B, Espinosa S, Fellay J, Flores C, Franco J, Gregersen P, Haerynck F, Hagin D, Halwani R, Heath J, Henrickson S, Hsieh E, Imai K, Itan Y, Karamitros T, Kisand K, Ku 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 diseaseInfectionAutoantibodiesPneumoniaInborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang Q, Bastard P, Liu Z, Le Pen J, Moncada-Velez M, Chen J, Ogishi M, Sabli IKD, Hodeib S, Korol C, Rosain J, Bilguvar K, Ye J, Bolze A, Bigio B, Yang R, Arias AA, Zhou Q, Zhang Y, Onodi F, Korniotis S, Karpf L, Philippot Q, Chbihi M, Bonnet-Madin L, Dorgham K, Smith N, Schneider WM, Razooky BS, Hoffmann HH, Michailidis E, Moens L, Han JE, Lorenzo L, Bizien L, Meade P, Neehus AL, Ugurbil AC, Corneau A, Kerner G, Zhang P, Rapaport F, Seeleuthner Y, Manry J, Masson C, Schmitt Y, Schlüter A, Le Voyer T, Khan T, Li J, Fellay J, Roussel L, Shahrooei M, Alosaimi MF, Mansouri D, Al-Saud H, Al-Mulla F, Almourfi F, Al-Muhsen SZ, Alsohime F, Al Turki S, Hasanato R, van de Beek D, Biondi A, Bettini LR, D’Angio’ M, Bonfanti P, Imberti L, Sottini A, Paghera S, Quiros-Roldan E, Rossi C, Oler AJ, Tompkins MF, Alba C, Vandernoot I, Goffard JC, Smits G, Migeotte I, Haerynck F, Soler-Palacin P, Martin-Nalda A, Colobran R, Morange PE, Keles S, Çölkesen F, Ozcelik T, Yasar KK, Senoglu S, Karabela ŞN, Rodríguez-Gallego C, Novelli G, Hraiech S, Tandjaoui-Lambiotte Y, Duval X, Laouénan C, Snow A, Dalgard C, Milner J, Vinh D, Mogensen T, Marr N, Spaan A, Boisson B, Boisson-Dupuis S, Bustamante J, Puel A, Ciancanelli M, Meyts I, Maniatis T, Soumelis V, Amara A, Nussenzweig M, García-Sastre A, Krammer F, Pujol A, Duffy D, Lifton R, Zhang S, Gorochov G, Béziat V, Jouanguy E, Sancho-Shimizu V, Rice C, Abel L, Notarangelo L, Cobat A, Su H, Casanova J, Foti G, Bellani G, Citerio G, Contro E, Pesci A, Valsecchi M, Cazzaniga M, 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, Bosteels C, 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, Çölkesen F, Colobran R, Comarmond C, Dalmau D, Darley D, Dauby N, Dauger S, de Pontual L, Dehban A, Delplancq G, Demoule 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, Heijmans C, Holanda-Peña M, Horcajada J, Hoste L, Hoste E, Hraiech S, Humbert L, Iglesias A, Íñigo-Campos A, Jamme M, Arranz M, Jordan I, Jorens P, Kanat F, Kapakli H, Kara I, Karbuz A, Yasar K, Keles S, Demirkol Y, Klocperk A, Król Z, Kuentz P, Kwan Y, Lagier J, Lambrecht B, Lau Y, Le Bourgeois F, Leo Y, Lopez R, Leung D, Levin M, Levy M, Lévy R, Li Z, Linglart A, Loeys B, 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, Naesens L, Nafati C, Neves J, Ng L, Medina Y, Cuadros E, Ocejo-Vinyals J, Orbak Z, Oualha M, Özçelik T, Pan-Hammarström Q, Parizot C, Pascreau T, Paz-Artal E, Pellegrini S, 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, Seijo L, Sene D, Senoglu S, Seppänen M, Ilovich A, Shahrooei M, Slabbynck H, Smadja D, Sobh A, Moreno X, Solé-Violán J, Soler C, Soler-Palacín P, Stepanovskiy Y, Stoclin A, Taccone F, Tandjaoui-Lambiotte Y, Taupin J, Tavernier S, Terrier B, Thumerelle C, Tomasoni G, Toubiana J, Alvarez J, Trouillet-Assant S, Troya J, Tucci A, Ursini M, Uzunhan Y, Vabres P, Valencia-Ramos J, Van Braeckel E, Van de Velde S, Van Den Rym A, Van Praet J, Vandernoot I, Vatansev H, Vélez-Santamaria V, Viel S, Vilain C, Vilaire M, Vincent A, Voiriot G, Vuotto F, Yosunkaya A, Young B, Yucel F, Zannad F, Zatz M, Belot A, Bole-Feysot C, Lyonnet S, Masson C, Nitschke P, Pouliet A, Schmitt Y, Tores F, Zarhrate M, Abel L, Andrejak C, Angoulvant F, Bachelet D, Basmaci R, Behillil S, Beluze M, Benkerrou D, Bhavsar K, Bompart F, Bouadma L, Bouscambert M, Caralp M, Cervantes-Gonzalez M, Chair A, Coelho A, Couffignal C, Couffin-Cadiergues S, D’Ortenzio E, Da Silveira C, Debray M, Deplanque D, Descamps D, Desvallées M, Diallo A, Diouf A, Dorival C, Dubos F, Duval X, Eloy P, Enouf V, Esperou H, Esposito-Farese M, Etienne M, Ettalhaoui N, Gault N, Gaymard A, Ghosn J, Gigante T, Gorenne I, Guedj J, Hoctin A, Hoffmann I, 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, Lévy Y, Levy-Marchal C, Lina B, Lingas G, Lucet J, Malvy D, Mambert M, Mentré F, Mercier N, Meziane A, Mouquet H, Mullaert J, Neant N, Noret M, Pages J, Papadopoulos A, Paul C, Peiffer-Smadja N, Petrov-Sanchez V, Peytavin G, Picone O, Puéchal O, Rosa-Calatrava M, Rossignol B, Rossignol P, Roy C, Schneider M, Semaille C, Mohammed N, Tagherset L, Tardivon C, Tellier M, Téoulé F, Terrier O, Timsit J, Trioux T, Tual C, Tubiana S, van der Werf S, Vanel N, Veislinger A, Visseaux B, Wiedemann A, Yazdanpanah Y, Alavoine L, Amat K, Behillil S, Bielicki J, Bruijning P, Burdet C, Caumes E, Charpentier C, Coignard B, Costa Y, Couffin-Cadiergues S, Damond F, Dechanet A, Delmas C, Descamps D, Duval X, Ecobichon J, Enouf V, Espérou H, Frezouls W, Houhou N, Ilic-Habensus E, Kafif O, Kikoine J, Le Hingrat Q, Lebeaux D, Leclercq A, Lehacaut J, Letrou S, Lina B, Lucet J, Malvy D, Manchon P, Mandic M, Meghadecha M, Motiejunaite J, Nouroudine M, Piquard V, Postolache A, Quintin C, Rexach J, Roufai L, Terzian Z, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, van Agtmael M, Algera A, van Baarle F, Bax D, Beudel M, Bogaard H, Bomers M, Bos L, Botta M, de Brabander J, de Bree G, Brouwer M, de Bruin S, Bugiani M, Bulle E, Chouchane O, Cloherty A, Elbers P, Fleuren L, Geerlings S, Geerts B, 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, van Mourik N, Nellen J, Paulus F, Peters E, van der Poll T, Preckel B, Prins J, Raasveld J, Reijnders T, Schinkel M, Schultz M, Schuurman A, Sigaloff K, Smit M, Stijnis C, Stilma W, Teunissen C, Thoral P, Tsonas A, van der Valk M, Veelo D, Vlaar A, de Vries H, van Vugt M, Wiersinga W, Wouters D, Zwinderman A, van de Beek D, Abel L, Aiuti A, Al Muhsen S, Al-Mulla F, Anderson M, Arias A, Feldman H, Bogunovic D, Bolze A, Bondarenko A, Bousfiha A, Brodin P, Bryceson Y, Bustamante C, Butte M, Casari G, Chakravorty S, Christodoulou J, Cirulli E, Condino-Neto A, Cooper M, Dalgard C, David A, DeRisi J, Desai M, Drolet B, Espinosa S, Fellay J, Flores C, Franco J, Gregersen P, Haerynck F, Hagin D, Halwani R, Heath J, Henrickson S, Hsieh E, Imai K, Itan Y, Karamitros T, Kisand K, Ku 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 A, Novelli G, 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, Jing H, Tung W, Luthers C, Bauman B, Shafer S, Zheng L, Zhang Z, Kubo S, Chauvin S, Meguro K, Shaw E, Lenardo M, Lack J, Karlins E, Hupalo D, Rosenberger J, Sukumar G, Wilkerson M, Zhang X. 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 3Human CRY1 variants associate with attention deficit/hyperactivity disorder
Onat OE, Kars ME, Gül Ş, Bilguvar K, Wu Y, Özhan A, Aydın C, Başak AN, Trusso MA, Goracci A, Fallerini C, Renieri A, Casanova JL, Itan Y, Atbaşoğlu CE, Saka MC, Kavaklı İ, Özçelik T. Human CRY1 variants associate with attention deficit/hyperactivity disorder. Journal Of Clinical Investigation 2020, 130: 3885-3900. PMID: 32538895, PMCID: PMC7324179, DOI: 10.1172/jci135500.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivity disorderDeficit/hyperactivity disorderHyperactivity disorderMajor depressive disorderSleep phase disorderGenotype-phenotype correlation analysisAdult EuropeansDepressive disorderIndependent cohortTherapeutic markersFunctional alterationsBehavioral symptomsInsomniaExome sequencingPhenome-wide association studyDisordersPhase disorderPatientsPsychiatric phenotypesMechanistic linkAffected familyArrhythmic phenotypeMolecular rhythmsPhenotypeAnxiety
2019
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing
Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A. Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing. Clinical Genetics 2019, 96: 473-477. PMID: 31389005, DOI: 10.1111/cge.13617.Peer-Reviewed Original ResearchConceptsChronic Intestinal Pseudo-ObstructionSmooth muscle actin geneMuscle actin geneAdditional genetic evidenceGene burden analysisIntestinal Pseudo-ObstructionRare gastrointestinal disorderSmooth muscle contractionActin geneMyosin genesAdditional genesGenetic evidenceCausal variantsWhole-exome sequencingFamily membersCIPO patientsPseudo-ObstructionGenetic linkageGastrointestinal disordersDominant mutationsGenesUnaffected family membersGastrointestinal tractRare mutationsMuscle contraction
2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N, Genomics T, Allori A, Angrist M, Ashley P, Bidegain M, Boyd B, Chambers E, Cope H, Cotten C, Curington T, Davis E, Ellestad S, Fisher K, French A, Gallentine W, Goldberg R, Hill K, Kansagra S, Katsanis N, Katsanis S, Kurtzberg J, Marcus J, McDonald M, Mikati M, Miller S, Murtha A, Perilla Y, Pizoli C, Purves T, Ross S, Sadeghpour A, Smith E, Wiener J, Corbett M, MacLennan A, Gecz J, Biskup S, Goldmann E, Rodan L, Kichula E, Segal E, Jackson K, Asamoah A, Dimmock D, McCarrier J, Botto L, Filloux F, Tvrdik T, Cascino G, Klingerman S, Neumann C, Wang R, Jacobsen J, Nolan M, Snell R, Lehnert K, Sadleir L, Anderlid B, Kvarnung M, Guerrini R, Friez M, Lyons M, Leonhard J, Kringlen G, Casas K, Achkar C, Smith L, Rotenberg A, Poduri A, Sanchis-Juan A, Carss K, Rankin J, Zeman A, Raymond F, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S, Study D, Hedrich U, Scheffer I, Helbig I, Zamponi G, Lerche H, Mefford H. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American Journal Of Human Genetics 2018, 103: 666-678. PMID: 30343943, PMCID: PMC6216110, DOI: 10.1016/j.ajhg.2018.09.006.Peer-Reviewed Original ResearchConceptsR-type calcium currentsEpileptic encephalopathyCalcium currentPathogenic variantsDevelopmental impairmentR-type calcium channelsDe novo pathogenic variantsCause of DEEProfound developmental impairmentHyperkinetic movement disordersNovo pathogenic variantsAnti-epileptic drug topiramateCentral nervous systemAbundant epileptiform activityVoltage-gated CaSevere neurodevelopmental disorderSeizure freedomInfantile-onset seizuresIntractable seizuresEpileptiform activityVoltage-dependent activationMovement disordersSevere hypotoniaHuman epilepsySynaptic transmissionClonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor
Dong W, Nicolson NG, Choi J, Barbieri AL, Kunstman JW, Azar S, Knight J, Bilguvar K, Mane SM, Lifton RP, Korah R, Carling T. Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor. Genes Chromosomes And Cancer 2018, 57: 645-652. PMID: 30136351, DOI: 10.1002/gcc.22678.Peer-Reviewed Original ResearchConceptsCommon ancestorProgression of ATCClonal evolution analysisEvolutionary lineagesGenetic relationshipsAnaplastic thyroid carcinomaClonal analysisAncestorEvolution analysisPrivate mutationsMutationsATC tumorsLineal relationshipLineagesNormal tissuesThyroid carcinomaLandscapeFollicular thyroid carcinomaPairsGenotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome
Yilmaz S, Alkaya D, Kasapçopur Ö, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Günel M, Tüysüz B. Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome. Molecular Genetics & Genomic Medicine 2018, 6: 230-248. PMID: 29397575, PMCID: PMC5902402, DOI: 10.1002/mgg3.364.Peer-Reviewed Original ResearchConceptsCoxa vara-pericarditis (CACP) syndromeCoxa varaCommon childhood rheumatic diseaseIncreased pain levelSevere hip involvementChildhood rheumatic diseasesJuvenile idiopathic arthritisDevelopmental coxa varaRare autosomal recessive conditionYears of ageUnrelated familiesWhole-exome sequencingAutosomal recessive conditionHip involvementIdiopathic arthritisMost patientsPain levelsRadiological findingsPleural effusionJoint involvementNoninflammatory arthropathyRheumatic diseasesNovel genomic alterationsFirst symptomsCACP syndrome
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-3De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis
Timberlake AT, Furey CG, Choi J, Nelson-Williams C, Loring E, Galm A, Kahle K, Steinbacher D, Larysz D, Persing J, Lifton R, Bilguvar K, Mane S, Tikhonova I, Castaldi C, Knight J. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: e7341-e7347. PMID: 28808027, PMCID: PMC5584457, DOI: 10.1073/pnas.1709255114.Peer-Reviewed Original ResearchConceptsBone morphogenetic proteinRas/ERKDe novo mutationsNovo mutationsRas/ERK pathwayDamaging de novo mutationsHigh locus heterogeneityRare syndromic diseaseCommon risk variantsInhibitor of WntSyndromic craniosynostosesNew genesParent-offspring triosSyndromic diseaseMorphogenetic proteinsNegative regulatorERK pathwayMore cranial suturesGenesMidline craniosynostosisRisk variantsWntLocus heterogeneityMutationsExome sequencing
2016
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. Journal Of Neurosurgery 2016, 126: 1879-1883. PMID: 27611203, DOI: 10.3171/2016.6.jns16665.Peer-Reviewed Original ResearchConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaWhole-exome sequencingArteriovenous malformationsExome sequencingWhole-exome sequencing analysisSpinal arteriovenous malformationsDiagnostic classification schemesExome sequencing analysisComprehensive genomic characterizationConclusion Study resultsCranial MRIDirect Sanger sequencingHemorrhagic telangiectasiaBlood samplesFamilial occurrenceHeterozygous mutationsACVRL1 mutationsPatientsThree SiblingsFourth siblingVariant segregationSanger sequencingMalformationsSiblings
2015
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon
Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO. A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. European Journal Of Paediatric Neurology 2015, 19: 743-746. PMID: 26190014, DOI: 10.1016/j.ejpn.2015.06.003.Peer-Reviewed Original ResearchExome 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 ShorteningSomatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis
Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M. Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis. Neuro-Oncology 2015, 17: 1356-1364. PMID: 25740784, PMCID: PMC4578578, DOI: 10.1093/neuonc/nov027.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasSomatic POLE mutationsPOLE mutationsMalignant high-grade gliomasLonger progression-free survivalProgression-free survivalSomatic mutationsOverall survivalPediatric patientsBetter prognosisClinical featuresImproved prognosisClinical behaviorImmune cellsBizarre cellsAggressive formGlioblastoma multiformeDisease pathophysiologyMolecular subgroupsHomozygous germline mutationGermline mutationsPrognosisGlioma subtypesComprehensive genomic analysisDistinct subgroupsThe distinct genetic pattern of ALS in Turkey and novel mutations
Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, Ömür Ö, Agim ZS, Eken A, Sen NE, Kavak P, Saygı C, Sapp PC, Keagle P, Parman Y, Tan E, Koç F, Deymeer F, Oflazer P, Hanağası H, Gürvit H, Bilgiç B, Durmuş H, Ertaş M, Kotan D, Akalın M, Güllüoğlu H, Zarifoğlu M, Aysal F, Döşoğlu N, Bilguvar K, Günel M, Keskin Ö, Akgün T, Özçelik H, Landers JE, Brown RH, Başak A. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiology Of Aging 2015, 36: 1764.e9-1764.e18. PMID: 25681989, PMCID: PMC6591733, DOI: 10.1016/j.neurobiolaging.2014.12.032.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAdultAgedAmyotrophic Lateral SclerosisAutophagy-Related ProteinsC9orf72 ProteinCell Cycle ProteinsCytoskeletal ProteinsDNA-Binding ProteinsExomeFemaleGenetic Association StudiesGuanine Nucleotide Exchange FactorsHumansIntracellular Signaling Peptides and ProteinsMaleMembrane Transport ProteinsMiddle AgedMutationNerve Tissue ProteinsNuclear ProteinsOncogene ProteinsProtein Deglycase DJ-1Protein Serine-Threonine KinasesProteinsRNA-Binding Protein FUSSequestosome-1 ProteinSuperoxide DismutaseSuperoxide Dismutase-1Transcription Factor TFIIIATRPM Cation ChannelsTurkeyUbiquitinsYoung AdultConceptsALS patientsFamilial ALS patientsSporadic ALS casesSALS patientsALS populationALS casesFamilial ALSSOD1 mutationsSQSTM1 genePatientsDistinct genetic patternsAmyotrophic lateral sclerosis mutationsExome sequencingDistinct genetic backgroundsGene mutationsSpectrum of mutationsNovel mutationsC9orf72Genetic backgroundALSMutationsPopulationSPG11TARDBP
2014
Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations
Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M. Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations. Pediatric Neurology 2014, 51: 806-813.e8. PMID: 25456301, PMCID: PMC5056964, DOI: 10.1016/j.pediatrneurol.2014.08.025.Peer-Reviewed Original ResearchConceptsBrain malformationsKnobloch syndromeCentral nervous system malformationsExpanding Clinical SpectrumStructural brain abnormalitiesStructural brain malformationsNervous system malformationsHuman cerebral cortexHuman cortical developmentWhole-exome sequencingConfirmatory Sanger sequencingCase seriesClinical presentationCerebral cortexClinical spectrumBrain abnormalitiesOcular abnormalitiesSystem malformationsClinical utilityCortical developmentImmunohistochemical analysisRare diseaseCOL18A1 mutationsBrain developmentPatientsHomozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.Peer-Reviewed Original ResearchConceptsCell divisionFamily-based linkage analysisLinkage analysisRho effector proteinsLinear actin filamentsMaintenance of polarityMitotic cell divisionHigh-throughput sequencingRare genetic variantsHuman neuronal precursor cellsParametric multipoint linkage analysisActivation of GTPNeuronal precursor cellsFormin familyMammalian DiaphanousEffector proteinsMultipoint linkage analysisSpindle formationActin filamentsNonsense alterationWhole-exome sequencingHuman pathologiesNeuroepithelial cellsGenetic variantsHomozygous loss