Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency.
Journal
The Journal of experimental medicine
ISSN: 1540-9538
Titre abrégé: J Exp Med
Pays: United States
ID NLM: 2985109R
Informations de publication
Date de publication:
04 07 2022
04 07 2022
Historique:
received:
03
02
2022
revised:
29
03
2022
accepted:
12
05
2022
entrez:
7
6
2022
pubmed:
8
6
2022
medline:
10
6
2022
Statut:
ppublish
Résumé
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I and III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, and clinical features of seven IRF7-deficient patients from six families and five ancestries. Five were homozygous and two were compound heterozygous for IRF7 variants. Patients typically had one episode of pulmonary viral disease. Age at onset was surprisingly broad, from 6 mo to 50 yr (mean age 29 yr). The respiratory viruses implicated included SARS-CoV-2, influenza virus, respiratory syncytial virus, and adenovirus. Serological analyses indicated previous infections with many common viruses. Cellular analyses revealed strong antiviral immunity and expanded populations of influenza- and SARS-CoV-2-specific memory CD4+ and CD8+ T cells. IRF7-deficient individuals are prone to viral infections of the respiratory tract but are otherwise healthy, potentially due to residual IFN-β and compensatory adaptive immunity.
Identifiants
pubmed: 35670811
pii: 213267
doi: 10.1084/jem.20220202
pmc: PMC9178406
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIH HHS
ID : S10 OD018521
Pays : United States
Organisme : Medical Research Council
ID : MR/S032304/1
Pays : United Kingdom
Organisme : NIAID NIH HHS
ID : R01 AI163029
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1 RR024143
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States
Investigateurs
Laurent Abel
(L)
Alessandro Aiuti
(A)
Saleh Al-Muhsen
(S)
Fahd Al-Mulla
(F)
Mark S Anderson
(MS)
Evangelos Andreakos
(E)
Andrés A Arias
(AA)
Hagit Baris Feldman
(H)
Alexandre Belot
(A)
Catherine M Biggs
(CM)
Dusan Bogunovic
(D)
Alexandre Bolze
(A)
Anastasiia Bondarenko
(A)
Ahmed A Bousfiha
(AA)
Petter Brodin
(P)
Yenan Bryceson
(Y)
Carlos D Bustamante
(CD)
Manish J Butte
(MJ)
Giorgio Casari
(G)
John Christodoulou
(J)
Antonio Condino-Neto
(A)
Stefan N Constantinescu
(SN)
Megan A Cooper
(MA)
Clifton L Dalgard
(CL)
Murkesh Desai
(M)
Beth A Drolet
(BA)
Jamila El Baghdadi
(J)
Sara Espinosa-Padilla
(S)
Jacques Fellay
(J)
Carlos Flores
(C)
José Luis Franco
(JL)
Antoine Froidure
(A)
Peter K Gregersen
(PK)
Bodo Grimbacher
(B)
Filomeen Haerynck
(F)
David Hagin
(D)
Rabih Halwani
(R)
Lennart Hammarström
(L)
James R Heath
(JR)
Sarah E Henrickson
(SE)
Elena W Y Hsieh
(EWY)
Eystein Husebye
(E)
Kohsuke Imai
(K)
Yuval Itan
(Y)
Erich D Jarvis
(ED)
Timokratis Karamitros
(T)
Kai Kisand
(K)
Cheng-Lung Ku
(CL)
Yu-Lung Lau
(YL)
Yun Ling
(Y)
Carrie L Lucas
(CL)
Tom Maniatis
(T)
Davood Mansouri
(D)
László Maródi
(L)
Isabelle Meyts
(I)
Joshua D Milner
(JD)
Kristina Mironska
(K)
Trine H Mogensen
(TH)
Tomohiro Morio
(T)
Lisa F P Ng
(LFP)
Luigi D Notarangelo
(LD)
Antonio Novelli
(A)
Giuseppe Novelli
(G)
Cliona O'Farrelly
(C)
Satoshi Okada
(S)
Keisuke Okamoto
(K)
Tayfun Ozcelik
(T)
Qiang Pan-Hammarström
(Q)
Maria Papadaki
(M)
Jean W Pape
(JW)
Rebeca Perez de Diego
(R)
David S Perlin
(DS)
Graziano Pesole
(G)
Anna M Planas
(AM)
Carolina Prando
(C)
Aurora Pujol
(A)
Lluis Quintana-Murci
(L)
Sathishkumar Ramaswamy
(S)
Laurent Renia
(L)
Igor Resnick
(I)
Carlos Rodríguez-Gallego
(C)
Vanessa Sancho-Shimizu
(V)
Anna Sediva
(A)
Mikko R J Seppänen
(MRJ)
Mohammed Shahrooei
(M)
Anna Shcherbina
(A)
Ondrej Slaby
(O)
Andrew L Snow
(AL)
Pere Soler-Palacín
(P)
András N Spaan
(AN)
Ivan Tancevski
(I)
Stuart G Tangye
(SG)
Ahmad Abou Tayoun
(AA)
Stuart E Turvey
(SE)
K M Furkan Uddin
(KMF)
Mohammed J Uddin
(MJ)
Diederik van de Beek
(D)
Donald C Vinh
(DC)
Horst von Bernuth
(H)
Joost Wauters
(J)
Mayana Zatz
(M)
Pawel Zawadzki
(P)
Helen C Su
(HC)
Jean-Laurent Casanova
(JL)
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2022 Campbell et al.
Références
Cell. 2014 Jun 5;157(6):1460-1472
pubmed: 24906157
Cell. 1988 Sep 9;54(6):903-13
pubmed: 3409321
J Immunol. 2021 Jul 1;207(1):133-152
pubmed: 34183371
J Exp Med. 2022 Jun 6;219(6):
pubmed: 35442417
Stem Cells. 2017 Apr;35(4):898-908
pubmed: 28090699
Cell. 2001 Aug 10;106(3):259-62
pubmed: 11509173
Bioinformatics. 2018 Dec 15;34(24):4307-4309
pubmed: 30535305
Eur J Immunol. 2021 May;51(5):1039-1061
pubmed: 33729549
Clin Infect Dis. 2022 Jan 7;74(1):136-139
pubmed: 33252644
J Allergy Clin Immunol. 2019 Aug;144(2):611-613.e3
pubmed: 31102697
J Clin Invest. 2021 Jan 4;131(1):
pubmed: 33393505
Nat Rev Immunol. 2006 Sep;6(9):644-58
pubmed: 16932750
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Annu Rev Immunol. 2019 Apr 26;37:547-570
pubmed: 30699000
J Clin Immunol. 2022 Apr;42(3):471-483
pubmed: 35091979
Science. 2015 Jun 5;348(6239):aaa0698
pubmed: 26045439
Nat Med. 2012 Aug;18(8):1224-31
pubmed: 22820642
J Allergy Clin Immunol Pract. 2020 Oct;8(9):3102-3111
pubmed: 32603902
Cell. 2018 Jan 25;172(3):423-438.e25
pubmed: 29249360
J Biol Chem. 2001 Oct 26;276(43):39765-71
pubmed: 11514542
Cell. 2020 Jun 11;181(6):1194-1199
pubmed: 32405102
J Allergy Clin Immunol Pract. 2016 Jul-Aug;4(4):777-9
pubmed: 27117246
Nat Methods. 2016 Feb;13(2):109-10
pubmed: 26820543
Trends Genet. 2021 Jan;37(1):46-58
pubmed: 32977999
Nat Immunol. 2004 Dec;5(12):1219-26
pubmed: 15549123
Nature. 2022 Mar;603(7902):587-598
pubmed: 35090163
J Immunol. 2007 Nov 1;179(9):6123-33
pubmed: 17947687
J Biol Chem. 2013 May 31;288(22):16196-205
pubmed: 23599426
Genome Med. 2021 Mar 17;13(1):40
pubmed: 33726816
Immunity. 2014 Jun 19;40(6):961-73
pubmed: 24909889
Int Immunol. 2020 Sep 30;32(10):663-671
pubmed: 32603428
Science. 2020 Oct 23;370(6515):
pubmed: 32972995
Bioinformatics. 2011 Jun 15;27(12):1739-40
pubmed: 21546393
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Blood. 2011 Aug 18;118(7):1806-17
pubmed: 21772053
J Exp Med. 2022 Jun 6;219(6):
pubmed: 35442418
J Clin Invest. 2021 Jan 4;131(1):
pubmed: 32960813
Sci Immunol. 2021 Aug 19;6(62):
pubmed: 34413140
J Exp Med. 2010 Jun 7;207(6):1247-60
pubmed: 20479116
Science. 1999 Jun 11;284(5421):1835-7
pubmed: 10364556
J Biol Chem. 2018 Oct 12;293(41):16057-16068
pubmed: 30171073
J Exp Med. 2019 Sep 2;216(9):2038-2056
pubmed: 31217193
Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3053-8
pubmed: 23391734
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
J Allergy Clin Immunol. 2017 Jun;139(6):1995-1997.e9
pubmed: 28087227
Cell Host Microbe. 2017 Aug 9;22(2):176-184
pubmed: 28799903
Science. 2015 Apr 24;348(6233):448-53
pubmed: 25814066
Science. 2021 Nov 26;374(6571):1080-1086
pubmed: 34822298
Curr Opin Immunol. 2016 Feb;38:109-20
pubmed: 26761402
Immunity. 2019 Apr 16;50(4):907-923
pubmed: 30995506
Clin Immunol. 2014 Aug;153(2):332-42
pubmed: 24909732
Trends Immunol. 2015 Mar;36(3):124-38
pubmed: 25704559
J Innate Immun. 2017;9(2):145-161
pubmed: 27811478
Nat Rev Immunol. 2015 Apr;15(4):231-42
pubmed: 25790790
J Immunol Methods. 2021 Dec;499:113159
pubmed: 34597619
Annu Rev Virol. 2019 Sep 29;6(1):567-584
pubmed: 31283436
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
Nat Med. 1999 Aug;5(8):919-23
pubmed: 10426316
Nat Genet. 2003 Mar;33(3):388-91
pubmed: 12590259
Sci Transl Med. 2015 Sep 30;7(307):307ra154
pubmed: 26424569
Proc Natl Acad Sci U S A. 2021 Jan 19;118(3):
pubmed: 33408250
Cell. 2020 May 28;181(5):1036-1045.e9
pubmed: 32416070
Clin Infect Dis. 2020 Sep 12;71(6):1400-1409
pubmed: 32270184
J Exp Med. 2019 Sep 2;216(9):2057-2070
pubmed: 31270247
Science. 2013 Mar 1;339(6123):1088-92
pubmed: 23449591
Nature. 2005 Apr 7;434(7034):772-7
pubmed: 15800576
J Clin Immunol. 2019 May;39(4):376-390
pubmed: 31123910
J Immunol. 2006 Apr 15;176(8):5078-83
pubmed: 16585605
J Exp Med. 2018 Oct 1;215(10):2567-2585
pubmed: 30143481
Immunity. 2019 Jan 15;50(1):37-50
pubmed: 30650380
Science. 2007 Sep 14;317(5844):1522-7
pubmed: 17872438
Oncol Res. 2017 Apr 14;25(4):511-522
pubmed: 27733217
Annu Rev Immunol. 2014;32:513-45
pubmed: 24555472
Sci Transl Med. 2021 Sep 22;13(612):eabh2624
pubmed: 34429372