Scopus Eşleşmesi Bulundu
283
Atıf
6
Cilt
🔓
Açık Erişim
Scopus Yazarları: Daniela Matuozzo, Alexandre Bolze, Benedetta Bigio, Kaya Bilguvar, Anna Lena Neehus, Simon J. Pelham, Bertrand Boisson, Fanny Onodi, Marcela Moncada-Velez, Majistor Raj Luxman Maglorius Renkilaraj, Marie Materna, Sarantis Korniotis, Masato Ogishi, Tom Le Voyer, Quentin Philippot, Roger Colobran, Antonio Novelli, Alessandro Aiuti, Simone Bondesan, Patrizia Rovere-Querini, Luis Felipe Reyes, Laura Planas-Serra, Luis M. Allende, Sevgi Keles, Gokhan Aytekin, Taushif Khan, Anne Puel, Shen Ying Zhang, Richard P. Lifton, Luigi Notarangelo, Peng Zhang, Laurent Meertens, Estelle Talouarn, Yoann Seeleuthner, Jérémie Rosain, Andrea Martin-Nalda, Nasrin Alipour Olyaei, Davood Mansouri, Nevin Hatipoglu, Figen Palabiyik, Giuseppe Novelli, Giorgio Casari, Julian Rojas, Ingrid G. Bustos, Agatha Schlüter, Aurora Pujol, Petter Brodin, Daniel Smole, C. I.Edvard Smith, Anna Carin Norlin, Laura E. Covill, Qiang Pan-Hammarström, Shrikant Mane, Manar Ata, Fatima Al Ali, András N. Spaan, Takaki Asano, Adrian Gervais, Yu Zhang, Jacques G. Rivière, Khalil Chaïbi, Mohammad Shahrooei, Jose Luis Franco, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Ilad Alavi Darazam, Paola Carrera, Federica Barzaghi, Cristina Tresoldi, Guillaume Morelle, Jesus Troya, Daniel E. Pleguezuelo, Rebeca Pérez de Diego, Özge Metin Akcan, Yenan T. Bryceson, Peter Bergman, Tessa M. Campbell, Clifton L. Dalgard, Charles Burdet, Robert Nussbaum, Amanda Kahn-Kirby, Andrew L. Snow, Paul Bastard, Andrés Augusto Arias, Christèle Kyheng, Marta Gut, Carlos Rodriguez-Gallego, Carlos Flores, Oscar Cabrera-Marante, Lennart Hammarström, Hassan Abolhassani, Nico Marr, Paolo Bonfanti, Andrea Biondi, Laurent Abel, Sarah Tubiana, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Vivien Béziat, Helen C. Su
Özet
Autosomal inborn errors of type I IFN immunity and autoantibodies against these cytokines underlie at least 10% of critical COVID-19 pneumonia cases. We report very rare, biochemically deleterious X-linked TLR7 variants in 16 unrelated male individuals aged 7 to 71 years (mean, 36.7 years) from a cohort of 1202 male patients aged 0.5 to 99 years (mean, 52.9 years) with unexplained critical COVID-19 pneumonia. None of the 331 asymptomatically or mildly infected male individuals aged 1.3 to 102 years (mean, 38.7 years) tested carry such TLR7 variants (P = 3.5 × 10−5). The phenotypes of five hemizygous relatives of index cases infected with SARS-CoV-2 include asymptomatic or mild infection (n = 2) or moderate (n = 1), severe (n = 1), or critical (n = 1) pneumonia. Two patients from a cohort of 262 male patients with severe COVID-19 pneumonia (mean, 51.0 years) are hemizygous for a deleterious TLR7 variant. The cumulative allele frequency for deleterious TLR7 variants in the male general population is <6.5 × 10−4. We show that blood B cell lines and myeloid cell subsets from the patients do not respond to TLR7 stimulation, a phenotype rescued by wild-type TLR7. The patients’ blood plasmacytoid dendritic cells (pDCs) produce low levels of type I IFNs in response to SARS-CoV-2. Overall, X-linked recessive TLR7 deficiency is a highly penetrant genetic etiology of critical COVID-19 pneumonia, in about 1.8% of male patients below the age of 60 years. Human TLR7 and pDCs are essential for protective type I IFN immunity against SARS-CoV-2 in the respiratory tract.
Makale Bilgileri
Dergi
Science Immunology
ISSN
2470-9468
Yıl
2021
/ 8. ay
Cilt / Sayı
6
/ 62
Sayfalar
1 – 30
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
935 kişi
Erişim Türü
Basılı+Elektronik
Erişim Linki
Makaleye Git
Alan
Sağlık Bilimleri Temel Alanı&gt;Çocuk Sağlığı ve Hastalıkları
YÖKSİS Yazar Kaydı
Yazar Adı
Asano Takaki, Boisson Bertrand, Onodi Fanny, Matuozzo Daniela, Moncada-Velez Marcela, Raj Luxman Maglorius Renkilaraj Majistor, Zhang Peng, Meertens Meertens, Bolze Alexandre, Materna Marie, Korniotis Sarantis, Gervais Adrian, Talouarn Estelle, Bigio Benedetta, Seeleuthner Yoann, Bilguvar Kaya, Zhang Yu, Neehus Anna-Lena, Ogishi Masato, Pelham Simon J., Le Voyer Tom, Rosain Jérémie, Philippot Quentin, Soler-Palacín Pere, Colobran Roger, Martin-Nalda Andrea, Rivière Jacques G., Tandjaoui-Lambiotte Yacine, Chaïbi Khalil, Shahrooei Mohammad, Darazam Ilad, Olyaei Nasrin Alipour, Mansouri Davood, HATİPOĞLU NEVİN, PALABIYIK FİGEN, ÖZÇELİK HASAN TAYFUN, Novelli Giuseppe, Novelli Antonio, Casari Giorgio, Aiuti Alessandro, Carrera Paola, Bondesan Simone, Barzaghi Federica, Rovere-Querini Patrizia, Tresoldi Cristina, Franco Jose Luis, Rojas Julian, Reyes Luis Felipe, Bustos Ingrid G., Arias Andres Augusto, Morelle Guillaume, Christèle Kyheng, Troya Jesús, Planas-Serra Laura, Schlüter Agatha, Gut Marta, Pujol Aurora, Allende Luis M., Rodriguez-Gallego Carlos, Flores Carlos, Cabrera-Marante Oscar, Pleguezuelo Daniel E., Pérez de Diego Rebeca, KELEŞ SEVGİ, AYTEKİN GÖKHAN, METİN AKCAN ÖZGE, Bryceson Yenan T., Bergman Peter, Brodin Petter, Smole Daniel, Smith C.I. Edvard, Norlin Anna-Carin, Campbell Tessa M., Covill Laura E., Hammarström Lennart, Pan-Hammarström Qiang, Abolhassani Hassan, Mane Shrikant, Marr Nico, Ata Manar, Ali Fatima Al, Khan Taushif, Spaan András N. Spaan, Dalgard Clifton L., Bonfanti Paolo, Biondi Andrea, Tubiana Sarah, Burdet Charles, Nussbaum Robert, Kahn-Kirby Amanda, Snow Andrew L., Abel Laurent, Aiuti Alessandro, Al-Muhsen Saleh, Al-Mulla Fahd, Anderson Mark S., Andreakos Evangelos, Arias Andrés A., Feldman Hagit Baris, Belot Alexandre, Biggs Catherine M., Bogunovic Dusan, Bondarenko Anastasiia, Bousfiha Ahmed A., Brodin Petter, Bryceson Yenan, Bustamante Carlos D., Butte Manish J., Casari Giorgio, Chakravorty Samya, Christodoulou John, Condino-Neto Antonio, Constantinescu Stefan N., Cooper Megan A., Dalgard Clifton L., Desai Murkesh, Drolet Beth A., El Baghdadi Jamila, Espinosa-Padilla Sarah, Fellay Jacques, Flores Carlos, Franco José Luis, Froidure Antoine, Gregersen Peter K., Haerynck Filomeen, Hagin David, Halwani Rabih, Hammarström Lennart, Heath James, Henrickson Sarah E., Hsieh Elena W.Y., Husebye Eystein, Imai Kohsuke, Itan Yuval, Jarvis Erich D., Karamitros Timokratis, Kisand Kai, Ku Cheng-Lung, Biggs Catherine M., Lau YuLung, Ling Yun, Lucas Carrie L., Maniatis Tom, Mansouri Davood, Maródi László, Meyts Isabelle, Milner Joshua D., Mironska Kristina, Mogensen Trine H., Morio Tomohiro, Ng Lisa F.P., Notarangelo Luigi D., Novelli Antonio, Novelli Giuseppe, O'Farrelly Cliona, Okada Satoshi, Ozcelik Tayfun, Pan-Hammarström Qiang, Perez de Diego Rebeca, Planas Anna M., Prando Carolina, Pujol Aurora, Quintana-Murci Lluis, Renia Laurent, Resnick Igor, Rodríguez-Gallego Carlos, Sancho-Shimizu Vanessa, Sediva Anna, Seppänen Mikko R.J., Shahrooei Mohammed, Shcherbina Anna, Slaby Ondrej, Snow Andrew L., Soler-Palacín Pere, Spaan András N., Tancevski Ivan, Tangye Stuart G., Tayoun Ahmad Abou, Ramaswamy Sathishkumar, Turvey Stuart E, Uddin K M Furkan, Uddin Mohammed J., van de Beek Diederik, Vinh Donald C., von Bernuth Horst, Zatz Mayana, Zawadzki Pawel, Su Helen C., Casanova Jean-Laurent
YÖKSİS ID
5671772
Hızlı Erişim
Metrikler
Scopus Atıf
283
JCR Quartile
Q1
Yazar Sayısı
935