Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
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:
01 08 2022
01 08 2022
Historique:
received:
23
01
2022
revised:
01
05
2022
accepted:
24
05
2022
entrez:
16
6
2022
pubmed:
17
6
2022
medline:
22
6
2022
Statut:
ppublish
Résumé
Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 × 10-11) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie ∼10% of hospitalizations for COVID-19 pneumonia in children.
Identifiants
pubmed: 35708626
pii: 213287
doi: 10.1084/jem.20220131
pmc: PMC9206114
pii:
doi:
Substances chimiques
Interferon Type I
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : European Research Council
Pays : International
Organisme : NIAID NIH HHS
ID : R01 AI091707
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
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 : NIH HHS
ID : S10 OD018521
Pays : United States
Organisme : NIH HHS
ID : S10 OD018521
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Organisme : NIAID NIH HHS
ID : P01 AI138938
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1 RR024143
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : NCATS NIH HHS
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI161444
Pays : United States
Investigateurs
Laurent Abel
(L)
Hassan Abolhassani
(H)
Alessandro Aiuti
(A)
Ozge Metin Akcan
(OM)
Saleh Al-Muhsen
(S)
Fahd Al-Mulla
(F)
Gulsum Alkan
(G)
Mark S Anderson
(MS)
Evangelos Andreakos
(E)
Andrés A Arias
(AA)
Jalila El Bakkouri
(J)
Hagit Baris Feldman
(H)
Alexandre Belot
(A)
Catherine M Biggs
(CM)
Dusan Bogunovic
(D)
Alexandre Bolze
(A)
Anastasiia Bondarenko
(A)
Ahmed A Bousfiha
(AA)
Sefika Elmas Bozdemir
(SE)
Petter Brodin
(P)
Yenan Bryceson
(Y)
Carlos D Bustamante
(CD)
Manish J Butte
(MJ)
Giorgio Casari
(G)
John Christodoulou
(J)
Roger Colobran
(R)
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)
Melike Emiroglu
(M)
Emine Hafize Erdeniz
(EH)
Sara Espinosa-Padilla
(S)
Jacques Fellay
(J)
Carlos Flores
(C)
José Luis Franco
(JL)
Antoine Froidure
(A)
Peter K Gregersen
(PK)
Bodo Grimbacher
(B)
Belgin Gulhan
(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)
Petr Jabandziev
(P)
Erich D Jarvis
(ED)
Timokratis Karamitros
(T)
Adem Karbuz
(A)
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)
Ayse Metin
(A)
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)
Şadiye Kübra Tüter Öz
(ŞK)
Tayfun Ozcelik
(T)
Qiang Pan-Hammarström
(Q)
Maria Papadaki
(M)
Jean W Pape
(JW)
Aslinur Ozkaya Parlakay
(AO)
Rebeca Perez de Diego
(R)
David S Perlin
(DS)
Graziano Pesole
(G)
Anna M Planas
(AM)
Petra Pokorna
(P)
Carolina Prando
(C)
Aurora Pujol
(A)
Lluis Quintana-Murci
(L)
Sathishkumar Ramaswamy
(S)
Laurent Renia
(L)
Igor Resnick
(I)
Jacques G Rivière
(JG)
Carlos Rodríguez-Gallego
(C)
Vanessa Sancho-Shimizu
(V)
Anna Sediva
(A)
Mikko R J Seppänen
(MRJ)
Mohammed Shahrooei
(M)
Anna Shcherbina
(A)
Katerina Slaba
(K)
Ondrej Slaby
(O)
Andrew L Snow
(AL)
Pere Soler-Palacín
(P)
Lien De Somer
(L)
András N Spaan
(AN)
Ivan Tancevski
(I)
Stuart G Tangye
(SG)
Ahmad Abou Tayoun
(A)
Dimitris Thanos
(D)
Stuart E Turvey
(SE)
K M Furkan Uddin
(KMF)
Mohammed J Uddin
(MJ)
Diederik van de Beek
(D)
François Vermeulen
(F)
Donald C Vinh
(DC)
Horst von Bernuth
(H)
Joost Wauters
(J)
Carine Wouters
(C)
Aysun Yahsi
(A)
Saliha Kanik Yuksek
(S)
Mayana Zatz
(M)
Pawel Zawadzki
(P)
Helen C Su
(HC)
Jean-Laurent Casanova
(JL)
Informations de copyright
© 2022 ZHANG et al.
Références
J Clin Invest. 2021 Jan 4;131(1):
pubmed: 33393505
J Clin Immunol. 2022 Apr;42(3):471-483
pubmed: 35091979
J Immunol. 2021 Jul 1;207(1):133-152
pubmed: 34183371
J Exp Med. 2017 Jul 3;214(7):1949-1972
pubmed: 28606988
Science. 2007 Sep 14;317(5844):1522-7
pubmed: 17872438
Curr Protoc Microbiol. 2020 Jun;57(1):ecpmc105
pubmed: 32475066
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
J Clin Immunol. 2020 Jan;40(1):24-64
pubmed: 31953710
J Exp Med. 2015 Sep 21;212(10):1641-62
pubmed: 26304966
Nat Methods. 2016 Feb;13(2):109-10
pubmed: 26820543
J Allergy Clin Immunol Pract. 2016 Jul-Aug;4(4):777-9
pubmed: 27117246
Cell. 2021 Apr 1;184(7):1671-1692
pubmed: 33743212
Front Immunol. 2019 Feb 14;10:130
pubmed: 30837984
Nature. 2022 Mar;603(7902):587-598
pubmed: 35090163
J Exp Med. 2021 Dec 6;218(12):
pubmed: 34726731
Science. 2004 Mar 5;303(5663):1526-9
pubmed: 14976262
Genome Biol. 2016 Jun 06;17(1):122
pubmed: 27268795
Science. 2006 Oct 13;314(5797):308-12
pubmed: 16973841
Science. 2020 Oct 23;370(6515):
pubmed: 32972995
Science. 2008 Aug 1;321(5889):691-6
pubmed: 18669862
Nature. 2021 Feb;590(7844):140-145
pubmed: 33137809
Immunity. 2022 Feb 8;55(2):201-209
pubmed: 35093190
Nat Med. 2021 Jan;27(1):28-33
pubmed: 33442016
Sci Immunol. 2018 Dec 21;3(30):
pubmed: 30578352
Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119
pubmed: 35576468
J Exp Med. 2022 Jun 6;219(6):
pubmed: 35442418
Nat Aging. 2021 Sep;1(9):769-782
pubmed: 34746804
J Clin Immunol. 2022 Jan;42(1):1-9
pubmed: 34686943
Front Immunol. 2021 Feb 18;11:624415
pubmed: 33679716
J Clin Invest. 2021 Jan 4;131(1):
pubmed: 32960813
Nat Commun. 2021 May 21;12(1):3025
pubmed: 34021152
Sci Immunol. 2021 Aug 19;6(62):
pubmed: 34413140
J Clin Immunol. 2022 Jan;42(1):19-24
pubmed: 34713375
Nat Biotechnol. 2022 Mar;40(3):319-324
pubmed: 34408314
Nature. 2001 Oct 18;413(6857):732-8
pubmed: 11607032
Nat Rev Immunol. 2013 Dec;13(12):875-87
pubmed: 24157572
J Exp Med. 2022 Jun 6;219(6):
pubmed: 35442417
Front Immunol. 2021 Jul 23;12:719115
pubmed: 34367187
Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8342-8347
pubmed: 28716935
Immunity. 2012 Apr 20;36(4):503-14
pubmed: 22520844
J Exp Med. 2011 Sep 26;208(10):2083-98
pubmed: 21911422
JCI Insight. 2021 May 10;6(9):
pubmed: 33822777
Bioinformatics. 2016 Apr 15;32(8):1220-2
pubmed: 26647377
J Clin Immunol. 2021 Jul;41(5):931-933
pubmed: 33763778
Cell. 2021 Jan 7;184(1):120-132.e14
pubmed: 33382968
J Clin Immunol. 2021 Oct;41(7):1425-1442
pubmed: 34101091
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 Exp Med. 2021 Apr 5;218(4):
pubmed: 33533916
J Allergy Clin Immunol. 2017 Jun;139(6):1995-1997.e9
pubmed: 28087227
Science. 2020 Oct 23;370(6515):
pubmed: 32972996
Sci Rep. 2018 May 3;8(1):6956
pubmed: 29725107
J Clin Immunol. 2021 Oct;41(7):1446-1456
pubmed: 34448086
JAMA. 2020 Aug 18;324(7):663-673
pubmed: 32706371
J Pediatr. 2012 Jun;160(6):1055-7
pubmed: 22402565
Elife. 2021 Mar 02;10:
pubmed: 33650967
Nat Rev Genet. 2002 Mar;3(3):225-9
pubmed: 11972160
Science. 2015 Apr 24;348(6233):448-53
pubmed: 25814066
Science. 2021 Nov 26;374(6571):1080-1086
pubmed: 34822298
J Clin Invest. 2011 Dec;121(12):4889-902
pubmed: 22105173
Proc Natl Acad Sci U S A. 2004 Apr 13;101(15):5598-603
pubmed: 15034168
Eur J Immunol. 2016 Nov;46(11):2639-2649
pubmed: 27615517
J Clin Immunol. 2020 Jan;40(1):232-235
pubmed: 31713088
NPJ Genom Med. 2021 Jul 1;6(1):55
pubmed: 34210994
J Clin Immunol. 2021 Jan;41(1):125-135
pubmed: 33083971
NAR Genom Bioinform. 2021 May 22;3(2):lqab037
pubmed: 34046589
Sci Transl Med. 2020 Oct 7;12(564):
pubmed: 32958614
Proc Natl Acad Sci U S A. 2021 Nov 9;118(45):
pubmed: 34702736
PLoS One. 2019 Dec 12;14(12):e0225825
pubmed: 31830086
J Allergy Clin Immunol. 2019 Jul;144(1):309-312.e10
pubmed: 30826365
Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8
pubmed: 27247391
J Exp Med. 2021 Jul 5;218(7):
pubmed: 33890986
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Genes Immun. 2022 Feb;23(1):51-56
pubmed: 34952932
Science. 2004 Mar 5;303(5663):1529-31
pubmed: 14976261
Sci Transl Med. 2015 Sep 30;7(307):307ra154
pubmed: 26424569
Virol J. 2021 Sep 5;18(1):180
pubmed: 34482844
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Nat Genet. 2003 Mar;33(3):388-91
pubmed: 12590259
J Clin Immunol. 2021 Apr;41(3):666-679
pubmed: 33598806
Med (N Y). 2020 Dec 18;1(1):14-20
pubmed: 33363283
Eur J Immunol. 2021 May;51(5):1039-1061
pubmed: 33729549
J Allergy Clin Immunol. 2016 May;137(5):1591-1595.e4
pubmed: 26632527
J Exp Med. 2021 Apr 5;218(4):
pubmed: 33544838
J Exp Med. 2019 Sep 2;216(9):2057-2070
pubmed: 31270247
Nature. 2021 Aug;596(7873):495-504
pubmed: 34237771
Cell. 2021 Aug 19;184(17):4447-4463.e20
pubmed: 34363755
Science. 2003 Mar 28;299(5615):2076-9
pubmed: 12637671
Immunity. 2006 Nov;25(5):745-55
pubmed: 17088085
Clin Infect Dis. 2022 Jan 7;74(1):136-139
pubmed: 33252644
Bioinformatics. 2010 Nov 15;26(22):2867-73
pubmed: 20926424
J Exp Med. 2018 Oct 1;215(10):2567-2585
pubmed: 30143481
Sci Transl Med. 2021 Jul 14;13(602):
pubmed: 34158411
J Allergy Clin Immunol. 2019 Aug;144(2):611-613.e3
pubmed: 31102697
Sci Immunol. 2021 Aug 19;6(62):
pubmed: 34413139