Publications

BibTex format

@article{Zhang:2020:10.1126/science.abd4570,
author = {Zhang, Q and Bastard, P and Liu, Z and Le, Pen J and Moncada-Velez, M and Chen, J and Ogishi, M and Sabli, IKD and Hodeib, S and Korol, C and Rosain, J and Bilguvar, K and Ye, J and Bolze, A and Bigio, B and Yang, R and Arias, AA and Zhou, Q and Zhang, Y and Onodi, F and Korniotis, S and Karpf, L and Philippot, Q and Chbihi, M and Bonnet-Madin, L and Dorgham, K and Smith, N and Schneider, WM and Razooky, BS and Hoffmann, H-H and Michailidis, E and Moens, L and Han, JE and Lorenzo, L and Bizien, L and Meade, P and Neehus, A-L and Ugurbil, AC and Corneau, A and Kerner, G and Zhang, P and Rapaport, F and Seeleuthner, Y and Manry, J and Masson, C and Schmitt, Y and Schlüter, A and Le, Voyer T and Khan, T and Li, J and Fellay, J and Roussel, L and Shahrooei, M and Alosaimi, MF and Mansouri, D and Al-Saud, H and Al-Mulla, F and Almourfi, F and Al-Muhsen, SZ and Alsohime, F and Al, Turki S and Hasanato, R and van, de Beek D and Biondi, A and Bettini, LR and D'Angio, M and Bonfanti, P and Imbe},
doi = {10.1126/science.abd4570},
journal = {Science},
pages = {1--16},
title = {Inborn errors of type I IFN immunity in patients with life-threatening COVID-19},
url = {http://dx.doi.org/10.1126/science.abd4570},
volume = {370},
year = {2020}
}

Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal 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 TLR3- and 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 define LOF variants in 23 patients (3.5%), aged 17 to 77 years, underlying autosomal recessive or dominant deficiencies. We show that human fibroblasts with mutations affecting this pathway 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.
AU  - Zhang,Q
AU  - Bastard,P
AU  - Liu,Z
AU  - Le,Pen J
AU  - Moncada-Velez,M
AU  - Chen,J
AU  - Ogishi,M
AU  - Sabli,IKD
AU  - Hodeib,S
AU  - Korol,C
AU  - Rosain,J
AU  - Bilguvar,K
AU  - Ye,J
AU  - Bolze,A
AU  - Bigio,B
AU  - Yang,R
AU  - Arias,AA
AU  - Zhou,Q
AU  - Zhang,Y
AU  - Onodi,F
AU  - Korniotis,S
AU  - Karpf,L
AU  - Philippot,Q
AU  - Chbihi,M
AU  - Bonnet-Madin,L
AU  - Dorgham,K
AU  - Smith,N
AU  - Schneider,WM
AU  - Razooky,BS
AU  - Hoffmann,H-H
AU  - Michailidis,E
AU  - Moens,L
AU  - Han,JE
AU  - Lorenzo,L
AU  - Bizien,L
AU  - Meade,P
AU  - Neehus,A-L
AU  - Ugurbil,AC
AU  - Corneau,A
AU  - Kerner,G
AU  - Zhang,P
AU  - Rapaport,F
AU  - Seeleuthner,Y
AU  - Manry,J
AU  - Masson,C
AU  - Schmitt,Y
AU  - Schlüter,A
AU  - Le,Voyer T
AU  - Khan,T
AU  - Li,J
AU  - Fellay,J
AU  - Roussel,L
AU  - Shahrooei,M
AU  - Alosaimi,MF
AU  - Mansouri,D
AU  - Al-Saud,H
AU  - Al-Mulla,F
AU  - Almourfi,F
AU  - Al-Muhsen,SZ
AU  - Alsohime,F
AU  - Al,Turki S
AU  - Hasanato,R
AU  - van,de Beek D
AU  - Biondi,A
AU  - Bettini,LR
AU  - D'Angio,M
AU  - Bonfanti,P
AU  - Imberti,L
AU  - Sottini,A
AU  - Paghera,S
AU  - Quiros-Roldan,E
AU  - Rossi,C
AU  - Oler,AJ
AU  - Tompkins,MF
AU  - Alba,C
AU  - Vandernoot,I
AU  - Goffard,J-C
AU  - Smits,G
AU  - Migeotte,I
AU  - Haerynck,F
AU  - Soler-Palacin,P
AU  - Martin-Nalda,A
AU  - Colobran,R
AU  - Morange,P-E
AU  - Keles,S
AU  - Çölkesen,F
AU  - Ozcelik,T
AU  - Yasar,KK
AU  - Senoglu,S
AU  - Karabela,N
AU  - Gallego,CR
AU  - Novelli,G
AU  - Hraiech,S
AU  - Tandjaoui-Lambiotte,Y
AU  - Duval,X
AU  - Laouénan,C
AU  - COVID-STORM,Clinicians
AU  - COVID,Clinicians
AU  - Imagine,COVID Group
AU  - French,COVID Cohort Study Group
AU  - CoV-Contact,Cohort
AU  - Amsterdam,UMC Covid-19
AU  - Biobank
AU  - COVID,Human Genetic Effort
AU  - NIAID-USUHS
AU  - TAGC,COVID Immunity Group
AU  - Snow,AL
AU  - Dalgard,CL
AU  - Milner,J
AU  - Vinh,DC
AU  - Mogensen,TH
AU  - Marr,N
AU  - Spaan,AN
AU  - Boisson,B
AU  - Boisson-Dupuis,S
AU  - Bustamante,J
AU  - Puel,A
AU  - Ciancanelli,M
AU  - Meyts,I
AU  - Maniatis,T
AU  - Soumelis,V
AU  - Amara,A
AU  - Nussenzweig,M
AU  - García-Sastre,A
AU  - Krammer,F
AU  - Pujol,A
AU  - Duffy,D
AU  - Lifton,R
AU  - Zhang,S-Y
AU  - Gorochov,G
AU  - Béziat,V
AU  - Jouanguy,E
AU  - Sancho-Shimizu,V
AU  - Rice,CM
AU  - Abel,L
AU  - Notarangelo,LD
AU  - Cobat,A
AU  - Su,HC
AU  - Casanova,J-L
DO  - 10.1126/science.abd4570
EP  - 16
PY  - 2020///
SN  - 0036-8075
SP  - 1
TI  - Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
T2  - Science
UR  - http://dx.doi.org/10.1126/science.abd4570
UR  - https://www.ncbi.nlm.nih.gov/pubmed/32972995
UR  - https://science.sciencemag.org/content/370/6515/eabd4570/tab-article-info
UR  - http://hdl.handle.net/10044/1/83123
VL  - 370
ER  -

Download

DrAlessiaDavid

Contact

Location

Summary

Citation

BibTex format

RIS format (EndNote, RefMan)