Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

被引：0

作者：

Daniela Matuozzo

Estelle Talouarn

Astrid Marchal

Peng Zhang

Jeremy Manry

Yoann Seeleuthner

Yu Zhang

Alexandre Bolze

Matthieu Chaldebas

Baptiste Milisavljevic

Adrian Gervais

Paul Bastard

Takaki Asano

Lucy Bizien

Federica Barzaghi

Hassan Abolhassani

Ahmad Abou Tayoun

Alessandro Aiuti

Ilad Alavi Darazam

Luis M. Allende

Rebeca Alonso-Arias

Andrés Augusto Arias

Gokhan Aytekin

Peter Bergman

Simone Bondesan

Yenan T. Bryceson

Ingrid G. Bustos

Oscar Cabrera-Marante

Sheila Carcel

Paola Carrera

Giorgio Casari

Khalil Chaïbi

Roger Colobran

Antonio Condino-Neto

Laura E. Covill

Ottavia M. Delmonte

Loubna El Zein

Carlos Flores

Peter K. Gregersen

Marta Gut

Filomeen Haerynck

Rabih Halwani

Selda Hancerli

Lennart Hammarström

Nevin Hatipoğlu

Adem Karbuz

Sevgi Keles

Christèle Kyheng

Rafael Leon-Lopez

Jose Luis Franco

机构：

[1] Laboratory of Human Genetics of Infectious Diseases,St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch

[2] Necker Branch,Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research

[3] INSERM U1163, Pediatric Hematology

[4] University Paris Cité,Immunology and Rheumatology Unit

[5] Imagine Institute,Department of Paediatric Immunohematology

[6] The Rockefeller University,Department of Biosciences and Nutrition

[7] NIAID,Research Center for Immunodeficiencies, Pediatrics Center of Excellence

[8] Helix,Genomics Center of Excellence

[9] Necker Hospital for Sick Children,Center for Genomic Discovery

[10] Assistance Publique-Hôpitaux de Paris (AP-HP),Infectious Diseases and Tropical Medicine Research Center

[11] IRCCS San Raffaele Scientific Institute,Department of Infectious Diseases and Tropical Medicine

[12] Karolinska Institute,Immunology Department

[13] Children’s Medical Center,Immunology Department

[14] Al Jalila Children’s Specialty Hospital,Department of Microbiology and Parasitology, Primary Immunodeficiencies Group, School of Medicine

[15] Mohammed Bin Rashid University of Medicine and Health Sciences,School of Microbiology

[16] San Raffaele Telethon Institute for Gene Therapy (SR-Tiget),Deparment of Internal Medicine, Division of Allergy and Immunology

[17] IRCSS San Raffaele Scientific Institute,Department of Infectious Diseases

[18] Vita-Salute San Raffaele University,Clinical Genomics

[19] Shahid Beheshti University of Medical Sciences,Department of Medicine, Centre for Hematology and Regenerative Medicine

[20] Loghman Hakim Hospital,Institute of Biomedical Research of IdiPAZ

[21] Shahid Beheshti University of Medical Sciences,Division of Genetics and Cell Biology

[22] University Hospital 12 de Octubre,School of Medicine

[23] Research Institute imas12 and Complutense University,Intensive Care Unit Department

[24] Hospital Universitario Central de Asturias; Health Research Institute of Principality of Asturias,Common and Rare Kidney Diseases

[25] University of Antioquia UdeA,Translational Immunology Research Group

[26] University of Antioquia UdeA,Genetics Department, Immunology Division

[27] Konya City Hospital,Department of Immunology, Institute of Biomedical Sciences

[28] The Immunodeficiency Unit,Biology Department

[29] Karolinska University Hospital,CIBER de Enfermedades Respiratorias

[30] Department of Laboratory Medicine,Faculty of Health Sciences

[31] Division of Clinical Immunology,Department of Internal Diseases and Pediatrics, Primary Immune Deficiency Research Laboratory, Centre for Primary Immunodeficiency Ghent

[32] IRCSS San Raffaele Scientific Institute, Research Institute for Medical and Health Sciences

[33] Karolinska Institute,Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine

[34] Universidad de La Sabana,Pediatric Infectious Diseases Unit

[35] University Hospital “La Paz”,Department of Pediatric Infectious Disease

[36] Unidad de Gestión Clínica de Cuidados Intensivos,Meram Medical Faculty, Pediatric Infectious Diseases Department

[37] Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC),Department of General Paediatrics

[38] Hospital Universitario Reina Sofía,Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine

[39] Universidad de Córdoba (UCO),The Clinical Tuberculosis and Epidemiology Research Center

[40] Genome-Phenome Relationship,Department of Clinical Immunology and Infectious Diseases

[41] San Raffaele Hospital,Pediatric Respiratory Diseases Research Center

[42] Vita-Salute San Raffaele University,Department of Infectious Diseases and Immunity

[43] Avicenne Hospital,Consorcio Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC)

[44] Assistance Publique-Hôpitaux de Paris,Laboratory of Haematology

[45] Sorbonne University,Pediatric Infectious Diseases and Immunodeficiencies Unit

[46] INSERM UMR-S 1155,Infection and Immunity in Pediatric Patients Research Group

[47] Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies,Department of Biomedicine and Prevention

[48] Vall d’Hebron Research Institute (VHIR),Laboratory of Medical Genetics

[49] Vall d’Hebron University Hospital (HUVH),Department of Molecular Biology and Genetics

[50] Vall d’Hebron Barcelona Hospital Campus,Laboratory of Immunogenetics of Human Diseases

来源：

Genome Medicine | / 15卷

关键词：

Rare variants; COVID-19; Immunity; Type I interferon;

D O I：

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学科分类号：

摘要：

引用

共 49 条

[1] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Matuozzo, Daniela
Talouarn, Estelle
Marchal, Astrid
Zhang, Peng
Manry, Jeremy
Seeleuthner, Yoann
Zhang, Yu
Bolze, Alexandre
Chaldebas, Matthieu
Milisavljevic, Baptiste
Gervais, Adrian
Bastard, Paul
Asano, Takaki
Bizien, Lucy
Barzaghi, Federica
Abolhassani, Hassan
Abou Tayoun, Ahmad
Aiuti, Alessandro
Alavi Darazam, Ilad
Allende, Luis M.
Alonso-Arias, Rebeca
Arias, Andres Augusto
Aytekin, Gokhan
Bergman, Peter
Bondesan, Simone
Bryceson, Yenan T.
Bustos, Ingrid G.
Cabrera-Marante, Oscar
Carcel, Sheila
Carrera, Paola
Casari, Giorgio
Chaibi, Khalil
Colobran, Roger
Condino-Neto, Antonio
Covill, Laura E.
Delmonte, Ottavia M.
El Zein, Loubna
Flores, Carlos
Gregersen, Peter K.
Gut, Marta
Haerynck, Filomeen
Halwani, Rabih
Hancerli, Selda
Hammarstroem, Lennart
Hatipoglu, Nevin
Karbuz, Adem
Keles, Sevgi
Kyheng, Christele
Leon-Lopez, Rafael
Franco, Jose Luis
GENOME MEDICINE, 2023, 15 (01)
[2] Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo
Estelle Talouarn
Astrid Marchal
Peng Zhang
Jeremy Manry
Yoann Seeleuthner
Yu Zhang
Alexandre Bolze
Matthieu Chaldebas
Baptiste Milisavljevic
Adrian Gervais
Paul Bastard
Takaki Asano
Lucy Bizien
Federica Barzaghi
Hassan Abolhassani
Ahmad Abou Tayoun
Alessandro Aiuti
Ilad Alavi Darazam
Luis M. Allende
Rebeca Alonso-Arias
Andrés Augusto Arias
Gokhan Aytekin
Peter Bergman
Simone Bondesan
Yenan T. Bryceson
Ingrid G. Bustos
Oscar Cabrera-Marante
Sheila Carcel
Paola Carrera
Giorgio Casari
Khalil Chaïbi
Roger Colobran
Antonio Condino-Neto
Laura E. Covill
Ottavia M. Delmonte
Loubna El Zein
Carlos Flores
Peter K. Gregersen
Marta Gut
Filomeen Haerynck
Rabih Halwani
Selda Hancerli
Lennart Hammarström
Nevin Hatipoğlu
Adem Karbuz
Sevgi Keles
Christèle Kyheng
Rafael Leon-Lopez
Jose Luis Franco
Genome Medicine, 16
[3] Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (vol 15, 22, 2023)
Matuozzo, Daniela
Talouarn, Estelle
Marchal, Astrid
Zhang, Peng
Manry, Jeremy
Seeleuthner, Yoann
Zhang, Yu
Bolze, Alexandre
Chaldebas, Matthieu
Milisavljevic, Baptiste
Gervais, Adrian
Bastard, Paul
Asano, Takaki
Bizien, Lucy
Barzaghi, Federica
Abolhassani, Hassan
Tayoun, Ahmad Abou
Aiuti, Alessandro
Darazam, Ilad Alavi
Allende, Luis M.
Alonso-Arias, Rebeca
Arias, Andres Augusto
Aytekin, Gokhan
Bergman, Peter
Bondesan, Simone
Bryceson, Yenan T.
Bustos, Ingrid G.
Cabrera-Marante, Oscar
Carcel, Sheila
Carrera, Paola
Casari, Giorgio
Chaibi, Khalil
Colobran, Roger
Condino-Neto, Antonio
Covill, Laura E.
Delmonte, Ottavia M.
Zein, Loubna El
Flores, Carlos
Gregersen, Peter K.
Gut, Marta
Haerynck, Filomeen
Halwani, Rabih
Hancerli, Selda
Hammarstroem, Lennart
Hatipoglu, Nevin
Karbuz, Adem
Keles, Sevgi
Kyheng, Christele
Leon-Lopez, Rafael
Franco, Jose Luis
GENOME MEDICINE, 2024, 16 (01)
[4] Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19
Povysil, Gundula
Butler-Laporte, Guillaume
Shang, Ning
Wang, Chen
Khan, Atlas
Alaamery, Manal
Nakanishi, Tomoko
Zhou, Sirui
Forgetta, Vincenzo
Eveleigh, Robert J. M.
Bourgey, Mathieu
Aziz, Naveed
Jones, Steven J. M.
Knoppers, Bartha
Scherer, Stephen W.
Strug, Lisa J.
Lepage, Pierre
Ragoussis, Jiannis
Bourque, Guillaume
Alghamdi, Jahad
Aljawini, Nora
Albes, Nour
Al-Afghani, Hani M.
Alghamdi, Bader
Almutairi, Mansour S.
Mahmoud, Ebrahim Sabri
Abu-Safieh, Leen
El Bardisy, Hadeel
Harthi, Fawz S. Al
Alshareef, Abdulraheem
Suliman, Bandar Ali
Alqahtani, Saleh A.
Almalik, Abdulaziz
Alrashed, May M.
Massadeh, Salam
Mooser, Vincent
Lathrop, Mark
Fawzy, Mohamed
Arabi, Yaseen M.
Mbarek, Hamdi
Saad, Chadi
Al-Muftah, Wadha
Jung, Junghyun
Mangul, Serghei
Badji, Radja
Al Thani, Asma
Ismail, Said I.
Gharavi, Ali G.
Abedalthagafi, Malak S.
Richards, J. Brent
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (14):
[5] Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia
Zhang, Qian
Cobat, Aurelie
Bastard, Paul
Notarangelo, Luigi D.
Su, Helen C.
Abel, Laurent
Casanova, Jean-Laurent
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (15):
[6] Association of rare predicted loss-of-function variants of influenza-related type I IFN genes with critical COVID-19 pneumonia. Reply
Povysil, Gundula
Butler-Laporte, Guillaume
Gharavi, Ali G.
Richards, J. Brent
Goldstein, David B.
Kiryluk, Krzysztof
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (15):
[7] Insufficient type I IFN immunity underlies life-threatening COVID-19 pneumonia
Bastard, Paul
Zhang, Qian
Cobat, Aurelie
Jouanguy, Emmanuelle
Zhang, Shen-Ying
Abel, Laurent
Casanova, Jean-Laurent
COMPTES RENDUS BIOLOGIES, 2021, 344 (01) : 19 - 25
[8] Inborn Errors of Type I IFN Immunity in Patients With Life-Threatening COVID-19
Orange, Jordan S.
PEDIATRICS, 2021, 148 : S72 - S73
[9] Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Zhang, Qian
Bastard, Paul
Liu, Zhiyong
Le Pen, Jeremie
Moncada-Velez, Marcela
Chen, Jie
Ogishi, Masato
Sabli, Ira K. D.
Hodeib, Stephanie
Korol, Cecilia
Rosain, Jeremie
Bilguvar, Kaya
Ye, Junqiang
Bolze, Alexandre
Bigio, Benedetta
Yang, Rui
Arias, Andres Augusto
Zhou, Qinhua
Zhang, Yu
Onodi, Fanny
Korniotis, Sarantis
Karpf, Lea
Philippot, Quentin
Chbihi, Marwa
Bonnet-Madin, Lucie
Dorgham, Karim
Smith, Nikaia
Schneider, William M.
Razooky, Brandon S.
Hoffmann, Hans-Heinrich
Michailidis, Eleftherios
Moens, Leen
Han, Ji Eun
Lorenzo, Lazaro
Bizien, Lucy
Meade, Philip
Neehus, Anna-Lena
Ugurbil, Aileen Camille
Corneau, Aurelien
Kerner, Gaspard
Zhang, Peng
Rapaport, Franck
Seeleuthner, Yoann
Manry, Jeremy
Masson, Cecile
Schmitt, Yohann
Schlueter, Agatha
Le Voyer, Tom
Khan, Taushif
Li, Juan
SCIENCE, 2020, 370 (6515)
[10] Rare loss-of-function variants may underlie pneumonia in COVID-19 patients
Dengler, V. L.
GENETICS IN MEDICINE, 2020, 22 (12) : 1924 - 1924

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