Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 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:
03 10 2022
03 10 2022
Historique:
received:
15
01
2022
revised:
21
06
2022
accepted:
14
07
2022
entrez:
12
9
2022
pubmed:
13
9
2022
medline:
15
9
2022
Statut:
ppublish
Résumé
Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-α/β (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23-dependent induction of IFN-γ is the only mechanism of mycobacterial disease common to patients with complete TYK2 deficiency with or without TYK2 expression, partial TYK2 deficiency across signaling pathways, or rare or common partial TYK2 deficiency specific for IL-23 signaling.
Identifiants
pubmed: 36094518
pii: 213456
doi: 10.1084/jem.20220094
pmc: PMC9472563
pii:
doi:
Substances chimiques
Interleukin-23
0
Interferon-gamma
82115-62-6
TYK2 Kinase
EC 2.7.10.2
TYK2 protein, human
EC 2.7.10.2
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 : NIAID NIH HHS
ID : R01 AI095983
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI162568
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI111143
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NCI NIH HHS
ID : F99 CA274708
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NIAID NIH HHS
ID : U19 AI142737
Pays : United States
Informations de copyright
© 2022 Ogishi et al.
Références
Semin Immunol. 2018 Apr;36:1-12
pubmed: 29254755
Semin Immunol. 2014 Dec;26(6):454-70
pubmed: 25453225
J Exp Med. 2008 Jul 7;205(7):1543-50
pubmed: 18591412
J Clin Immunol. 2020 Jan;40(1):232-235
pubmed: 31713088
Cell. 2020 Dec 23;183(7):1826-1847.e31
pubmed: 33296702
Immunity. 2019 Apr 16;50(4):871-891
pubmed: 30995504
Bioinformatics. 2015 Jan 15;31(2):166-9
pubmed: 25260700
Sci Immunol. 2019 Nov 29;4(41):
pubmed: 31784499
J Exp Med. 2019 Sep 2;216(9):1969-1971
pubmed: 31235508
J Allergy Clin Immunol. 2013 Mar;131(3):825-30
pubmed: 23158016
Nat Immunol. 2019 Feb;20(2):163-172
pubmed: 30643263
Ann N Y Acad Sci. 2011 Dec;1246:102-7
pubmed: 22236434
J Exp Med. 2022 Aug 1;219(8):
pubmed: 35708626
Eur J Immunol. 2003 Jun;33(6):1461-4
pubmed: 12778462
Medicine (Baltimore). 2010 Nov;89(6):381-402
pubmed: 21057261
Am J Hum Genet. 2021 Mar 4;108(3):517-524
pubmed: 33667394
Hum Genet. 2020 Jun;139(6-7):911-918
pubmed: 32040615
Nat Med. 2021 Sep;27(9):1646-1654
pubmed: 34183838
Nature. 2007 Aug 30;448(7157):1058-62
pubmed: 17676033
Proc Natl Acad Sci U S A. 2021 Apr 13;118(15):
pubmed: 33876776
Proc Natl Acad Sci U S A. 2019 May 21;116(21):10430-10434
pubmed: 31068474
J Exp Med. 2015 Sep 21;212(10):1641-62
pubmed: 26304966
Sci Immunol. 2018 Jun 15;3(24):
pubmed: 29907691
Nat Methods. 2016 Feb;13(2):109-10
pubmed: 26820543
Pediatr Blood Cancer. 2017 Jun;64(6):
pubmed: 27873456
Curr Opin Immunol. 2021 Oct;72:262-271
pubmed: 34315005
Genome Biol. 2014;15(12):550
pubmed: 25516281
Sci Immunol. 2021 May 14;6(59):
pubmed: 33990378
J Exp Med. 2022 Apr 4;219(4):
pubmed: 35258551
Nature. 2015 Jan 1;517(7532):89-93
pubmed: 25307056
J Clin Invest. 2020 Jun 1;130(6):3158-3171
pubmed: 32163377
Nucleic Acids Res. 2019 Jul 2;47(W1):W212-W224
pubmed: 31114921
Nucleic Acids Res. 2015 Apr 20;43(7):e47
pubmed: 25605792
Nat Methods. 2019 Dec;16(12):1289-1296
pubmed: 31740819
Sci Immunol. 2018 Dec 21;3(30):
pubmed: 30578352
Cell. 2021 Jun 24;184(13):3573-3587.e29
pubmed: 34062119
J Clin Invest. 2021 Jan 4;131(1):
pubmed: 32960813
Science. 2022 Jun 17;376(6599):eabm6380
pubmed: 35587511
J Exp Med. 1993 Oct 1;178(4):1435-40
pubmed: 8376946
Front Pediatr. 2020 May 27;8:253
pubmed: 32537443
Curr Protoc Immunol. 2016 Nov 1;115:7.21C.1-7.21C.12
pubmed: 27801513
J Allergy Clin Immunol. 2008 May;121(5):1108-11
pubmed: 18405958
Science. 2022 Feb 25;375(6583):859-863
pubmed: 35201883
J Immunol. 2008 Jan 1;180(1):647-54
pubmed: 18097067
N Engl J Med. 2009 Nov 19;361(21):2033-45
pubmed: 19890111
Sci Rep. 2018 May 3;8(1):6956
pubmed: 29725107
Hum Genet. 2020 Jun;139(6-7):1001-1009
pubmed: 32055999
Cell Rep. 2020 May 12;31(6):107633
pubmed: 32402279
Curr Top Microbiol Immunol. 2014;380:1-18
pubmed: 25004811
J Pediatr. 2012 Jun;160(6):1055-7
pubmed: 22402565
J Exp Med. 2020 Jun 1;217(6):
pubmed: 32207811
Hum Genet. 2020 Jun;139(6-7):941-948
pubmed: 32025908
J Exp Med. 2003 Feb 17;197(4):527-35
pubmed: 12591909
Sci Immunol. 2018 Dec 21;3(30):
pubmed: 30578351
Science. 2015 Aug 7;349(6248):606-613
pubmed: 26160376
Eur J Immunol. 2016 Nov;46(11):2639-2649
pubmed: 27615517
Bioinformatics. 2018 Dec 15;34(24):4307-4309
pubmed: 30535305
Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6713-8
pubmed: 27247391
Hum Genet. 2020 Jun;139(6-7):993-1000
pubmed: 32025907
Proc Natl Acad Sci U S A. 2021 Jan 19;118(3):
pubmed: 33408250
BMC Bioinformatics. 2008 Dec 29;9:559
pubmed: 19114008
Cell Rep. 2019 Feb 5;26(6):1627-1640.e7
pubmed: 30726743
Cell. 2022 Aug 18;185(17):3086-3103
pubmed: 35985287
Annu Rev Immunol. 2002;20:581-620
pubmed: 11861613
Eur J Immunol. 2021 May;51(5):1039-1061
pubmed: 33729549
Science. 2012 Sep 28;337(6102):1684-8
pubmed: 22859821
Genome Biol. 2016 Jan 26;17:13
pubmed: 26813401
Hum Mutat. 2013 Oct;34(10):1329-39
pubmed: 23864330
Immunity. 2006 Nov;25(5):745-55
pubmed: 17088085
EMBO J. 2003 Feb 3;22(3):537-47
pubmed: 12554654
Nat Commun. 2020 Nov 30;11(1):6077
pubmed: 33257685
J Exp Med. 1983 Sep 1;158(3):670-89
pubmed: 6411853
Nat Commun. 2016 Dec 23;7:13992
pubmed: 28008925
Science. 2011 Apr 1;332(6025):65-8
pubmed: 21350122
J Exp Med. 2021 Aug 2;218(8):
pubmed: 34160550
J Clin Immunol. 2017 Oct;37(7):732-738
pubmed: 28865061
J Immunol. 1997 May 15;158(10):4822-31
pubmed: 9144497
Science. 1993 Mar 19;259(5102):1739-42
pubmed: 8456300
Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20
pubmed: 26483451
Infect Drug Resist. 2020 Dec 02;13:4347-4353
pubmed: 33293838
Turk J Pediatr. 2016;58(4):356-361
pubmed: 28276206