Inherited IL-18BP deficiency in human fulminant viral hepatitis.
Child
Cohort Studies
Female
Gene Frequency
Genetic Diseases, Inborn
/ complications
Hep G2 Cells
Hepatitis A
/ genetics
Hepatitis A Virus, Human
Hepatocytes
/ metabolism
Homozygote
Humans
Intercellular Signaling Peptides and Proteins
/ deficiency
Interleukin-18
/ metabolism
Killer Cells, Natural
/ immunology
Liver
/ metabolism
Loss of Function Mutation
Lymphocyte Activation
/ genetics
Macrophages
/ metabolism
Male
Massive Hepatic Necrosis
/ genetics
Pedigree
Exome Sequencing
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:
05 08 2019
05 08 2019
Historique:
received:
12
04
2019
revised:
14
05
2019
accepted:
15
05
2019
pubmed:
20
6
2019
medline:
20
6
2020
entrez:
20
6
2019
Statut:
ppublish
Résumé
Fulminant viral hepatitis (FVH) is a devastating and unexplained condition that strikes otherwise healthy individuals during primary infection with common liver-tropic viruses. We report a child who died of FVH upon infection with hepatitis A virus (HAV) at age 11 yr and who was homozygous for a private 40-nucleotide deletion in
Identifiants
pubmed: 31213488
pii: jem.20190669
doi: 10.1084/jem.20190669
pmc: PMC6683989
doi:
Substances chimiques
IL18 protein, human
0
Intercellular Signaling Peptides and Proteins
0
Interleukin-18
0
interleukin-18 binding protein
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1777-1790Subventions
Organisme : NIAID NIH HHS
ID : R01 AI091707
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM066699
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 Belkaya et al.
Références
Immunity. 1999 Jan;10(1):127-36
pubmed: 10023777
FEBS Lett. 1999 Feb 26;445(2-3):338-42
pubmed: 10094485
Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1190-5
pubmed: 10655506
Eur Cytokine Netw. 2000 Mar;11(1):15-26
pubmed: 10705295
Immunol Rev. 2000 Apr;174:192-209
pubmed: 10807517
Cancer Res. 2001 Feb 1;61(3):884-8
pubmed: 11221875
J Clin Gastroenterol. 2001 May-Jun;32(5):453-4
pubmed: 11319325
J Hepatol. 2001 Jul;35(1):112-9
pubmed: 11495028
J Immunol. 2001 Nov 15;167(10):5913-20
pubmed: 11698468
J Immunol. 2002 Mar 1;168(5):2282-7
pubmed: 11859116
J Gastroenterol Hepatol. 2002 Mar;17(3):285-94
pubmed: 11982699
Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16963-8
pubmed: 12486241
J Leukoc Biol. 2003 Nov;74(5):889-96
pubmed: 12960225
Gut. 2004 Mar;53(3):392-400
pubmed: 14960523
Expert Rev Mol Med. 2001 Mar 28;2001:1-19
pubmed: 14987358
Hepatology. 2006 Feb;43(2):362-72
pubmed: 16440347
Acta Medica (Hradec Kralove). 2005;48(3-4):173-5
pubmed: 16640033
J Gastroenterol Hepatol. 2006 Nov;21(11):1731-6
pubmed: 16984598
Nat Protoc. 2006;1(3):1559-82
pubmed: 17406449
Nat Protoc. 2006;1(6):2742-5
pubmed: 17406530
Nucleic Acids Res. 2007;35(22):7636-50
pubmed: 17981838
Annu Rev Pathol. 2006;1:23-61
pubmed: 18039107
Pediatr Crit Care Med. 2010 May;11(3):385-9
pubmed: 20101195
J Leukoc Biol. 2011 Mar;89(3):433-42
pubmed: 21106643
J Viral Hepat. 2011 Jul;18(7):e167-74
pubmed: 21143345
J Clin Invest. 2011 Mar;121(3):1111-8
pubmed: 21339644
PLoS One. 2013;8(3):e58836
pubmed: 23516562
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
Sci Transl Med. 2014 Sep 17;6(254):254ra129
pubmed: 25232181
J Exp Med. 2014 Oct 20;211(11):2137-49
pubmed: 25311508
Proc Natl Acad Sci U S A. 2015 Nov 3;112(44):13615-20
pubmed: 26483451
PLoS One. 2015 Oct 22;10(10):e0141074
pubmed: 26492577
Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):E7118-27
pubmed: 26621739
Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):E7128-37
pubmed: 26621750
Nat Methods. 2016 Feb;13(2):109-10
pubmed: 26820543
Front Immunol. 2016 Mar 22;7:101
pubmed: 27047490
J Exp Med. 2017 Feb;214(2):269-283
pubmed: 28108590
Cell. 2017 Feb 23;168(5):789-800.e10
pubmed: 28235196
J Am Coll Cardiol. 2017 Apr 4;69(13):1653-1665
pubmed: 28359509
J Hepatol. 2017 May;66(5):1047-1081
pubmed: 28417882
Eur J Med Genet. 2017 Aug;60(8):426-432
pubmed: 28576691
Medicine (Baltimore). 2017 Sep;96(35):e7847
pubmed: 28858094
J Hepatol. 2017 Sep 5;:null
pubmed: 28887164
J Clin Immunol. 2018 Jan;38(1):96-128
pubmed: 29226302
Immunol Rev. 2018 Jan;281(1):138-153
pubmed: 29247988
Semin Immunol. 2018 Apr;36:1-12
pubmed: 29254755
Immunity. 2018 Jan 16;48(1):161-173.e5
pubmed: 29305140
Front Immunol. 2018 Feb 08;9:161
pubmed: 29472923
Cell. 2018 Feb 22;172(5):952-965.e18
pubmed: 29474921
Proc Natl Acad Sci U S A. 2018 Apr 10;115(15):E3509-E3518
pubmed: 29581297
Hepatology. 1985 Jul-Aug;5(4):649-60
pubmed: 2991107
J Exp Med. 2018 Sep 3;215(9):2289-2310
pubmed: 30068544
J Exp Med. 2018 Oct 1;215(10):2567-2585
pubmed: 30143481
Sci Immunol. 2018 Dec 21;3(30):
pubmed: 30578351
Curr Top Microbiol Immunol. 1982;99:165-200
pubmed: 6178564
Infect Immun. 1995 Oct;63(10):3966-72
pubmed: 7558306
Nucleic Acids Res. 1993 Nov 11;21(22):5198-202
pubmed: 8255777
J Immunol. 1996 Jun 1;156(11):4274-9
pubmed: 8666798
Methods Mol Biol. 1996;57:157-65
pubmed: 8850003
J Immunol. 1997 Mar 15;158(6):2576-84
pubmed: 9058789
Proc Natl Acad Sci U S A. 1998 Mar 31;95(7):3461-6
pubmed: 9520388