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
4348 – 4348
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
931 kişi
Erişim Türü
Basılı+Elektronik
Erişim Linki
Makaleye Git
Alan
Sağlık Bilimleri Temel Alanı
Çocuk Enfeksiyon Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
YÖKSİS Yazar Kaydı
Yazar Adı
HATİPOĞLU NEVİN, PALABIYIK FİGEN, ÖZÇELİK HASAN TAYFUN, KELEŞ SEVGİ, AYTEKİN GÖKHAN, METİN AKCAN ÖZGE, AKYÜZ ÖZKAN ESRA, ALKAN GÜLSÜM, BAYHAN GÜLSÜM İCLAL, ÇELİK JALE BENGİ, COŞKUNER TANER, ELMAS BOZDEMİR ŞEFİKA, EMİROĞLU MELİKE, ERDENİZ EMİNE HAFİZE, EROL AYTEKİN SELMA, GAYRETLİ AYDIN ZEYNEP GÖKÇE, HANÇERLİ TÖRÜN SELDA, HEPPEKCAN DENİZ, KANIK YÜKSEK SALİHA, KARA YALÇIN BURAK, KARAHAN AYDIN, KARBUZ ADEM, KART YAŞAR KADRİYE, KASAPÇOPUR ÖZGÜR, KENDİR DEMİRKOL YASEMİN, KIZIL CAN, KILIÇ AHMET OSMAN, ÖZKAYA PARLAKAY ASLI NUR, YAHŞİ AYSUN, YEŞİLBAŞ OSMAN, YILDIZ MEHMET, YÜKSELMİŞ UFUK, TÜTER ÖZ ŞADİYE KÜBRA, UZUNHAN YURDAGÜL, GÜLHAN BELGİN, ŞENOĞLU SEVTAP
YÖKSİS ID
7271112
Hızlı Erişim
Metrikler
Scopus Atıf
283
JCR Quartile
Q1
Yazar Sayısı
931