Scopus Eşleşmesi Bulundu
1617
Atıf
370
Cilt
🔓
Açık Erişim
Scopus Yazarları: Marcela Moncada-Velez, Masato Ogishi, Bertrand Boisson, Jacinta Bustamante, Shen Ying Zhang, Emmanuelle Jouanguy, Jean Laurent Casanova, Lazaro Lorenzo, Lucy Bizien, Jérémie Le Pen, Stephanie Hodeib, Kaya Bilguvar, Yu Zhang, Lucie Bonnet-Madin, Darragh Duffy, Leen Moens, Juan Li, Vivien Béziat, Laurent Abel, Quentin Philippot, Yoann Seeleuthner, Tom Le Voyer, William M. Schneider, Brandon S. Razooky, Luigi Notarangelo, Fanny Onodi, Vassili Soumelis, Ali Amara, Guy Gorochov, Nikaïa Smith, Isabelle Meyts, Qian Zhang, Jie Chen, Aileen Camille Ugurbil, Peng Zhang, András N. Spaan, Stéphanie Boisson-Dupuis, Anne Puel, Michael J. Ciancanelli, Jérémie Rosain, H. Heinrich Hoffmann, Eleftherios Michailidis, Charles M. Rice, Ira K.D. Sabli, Junqiang Ye, Helen C. Su, Philip Meade, Zhiyong Liu, Benedetta Bigio, Rui Yang, Andrés Augusto Arias, Qinhua Zhou, Ji Eun Han, Franck Rapaport, Aurélie Cobat, Paul Bastard, Cecilia Korol, Marwa Chbihi, Anna Lena Neehus, Gaspard Kerner, Jeremy Manry, Vanessa Sancho-Shimizu, Tom Maniatis, Alexandre Bolze, Sarantis Korniotis, Léa Karpf, Karim Dorgham
Özet
Clinical outcome upon infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ranges from silent infection to lethal coronavirus disease 2019 (COVID-19). We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern Toll-like receptor 3 (TLR3)- and interferon regulatory factor 7 (IRF7)-dependent type I interferon (IFN) immunity to influenza virus in 659 patients with life-threatening COVID-19 pneumonia relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally defined LOF variants underlying autosomal-recessive or autosomal-dominant deficiencies in 23 patients (3.5%) 17 to 77 years of age. We show that human fibroblasts with mutations affecting this circuit are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.
Makale Bilgileri
Dergi
American Association for the Advancement of Science (AAAS)
ISSN
0036-8075
Yıl
2020
/ 10. ay
Cilt / Sayı
370
/ 6515
Sayfalar
4570 – 4570
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q1
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
740 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
KELEŞ SEVGİ, ÇÖLKESEN FATMA, ÖZÇELİK HASAN TAYFUN, KART YAŞAR KADRİYE, ŞENOĞLU SEVTAP, KARABELA ŞEMSİ NUR, METİN AKCAN ÖZGE, ALKAN GÜLSÜM, ARSLAN ŞEVKET, ÇÖLKESEN FATİH, EMİROĞLU MELİKE, ERDENİZ EMİNE HAFİZE, EROL AYTEKİN SELMA, EVCEN RECEP, GÖK FUNDA, GÜL YAHYA, GÜNER ŞÜKRÜ NAİL, HATİPOĞLU NEVİN, KANAT FİKRET, KAPAKLI HASAN, KARA İSKENDER, KARBUZ ADEM, KENDİR DEMİRKOL YASEMİN, ORBAK ZERRİN, REİSLİ İSMAİL, YOSUNKAYA ALPER
YÖKSİS ID
7271038
Hızlı Erişim
Metrikler
Scopus Atıf
1617
JCR Quartile
Q1
Yazar Sayısı
740