Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function.
Acetylmuramyl-Alanyl-Isoglutamine
/ pharmacology
Animals
Arthritis
/ genetics
Colitis
/ chemically induced
Cytokines
/ metabolism
HEK293 Cells
Humans
Inflammation
/ genetics
Ligands
Mice
Mutation
NF-kappa B
/ metabolism
Nod2 Signaling Adaptor Protein
/ genetics
Nucleotides
/ metabolism
Sarcoidosis
Synovitis
Uveitis
Blau
Crohns disease
IRF4
NFkapapB
Nod2
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2022
2022
Historique:
received:
07
07
2022
accepted:
29
08
2022
entrez:
3
10
2022
pubmed:
4
10
2022
medline:
5
10
2022
Statut:
epublish
Résumé
The studies described here provide an analysis of the pathogenesis of Blau syndrome and thereby the function of NOD2 as seen through the lens of its dysfunction resulting from Blau-associated NOD2 mutations in its nucleotide-binding domain (NBD). As such, this analysis also sheds light on the role of NOD2 risk polymorphisms in the LRR domain occurring in Crohn's disease. The main finding was that Blau NOD2 mutations precipitate a loss of canonical NOD2 signaling
Identifiants
pubmed: 36189261
doi: 10.3389/fimmu.2022.988862
pmc: PMC9520668
doi:
Substances chimiques
Cytokines
0
Ligands
0
NF-kappa B
0
NOD2 protein, human
0
Nod2 Signaling Adaptor Protein
0
Nod2 protein, mouse
0
Nucleotides
0
Acetylmuramyl-Alanyl-Isoglutamine
53678-77-6
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
988862Informations de copyright
Copyright © 2022 Mao, Dhar, Meng, Fuss, Montgomery-Recht, Yang, Xu, Kitani and Strober.
Déclaration de conflit d'intérêts
Author KM-R is employed by Leidos Biomedical Research, Inc. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3455-60
pubmed: 12626759
J Leukoc Biol. 2013 Nov;94(5):927-32
pubmed: 23794710
Pediatr Rheumatol Online J. 2014 Aug 06;12:33
pubmed: 25136265
PLoS One. 2008 Apr 30;3(4):e2119
pubmed: 18446235
PLoS One. 2012;7(7):e41255
pubmed: 22829933
J Clin Invest. 2008 Feb;118(2):545-59
pubmed: 18188453
Mucosal Immunol. 2008 Nov;1 Suppl 1:S5-9
pubmed: 19079230
EMBO J. 2004 Apr 7;23(7):1587-97
pubmed: 15044951
Biochim Biophys Acta. 2012 Nov;1823(11):2022-8
pubmed: 22522061
Nat Commun. 2016 Jun 10;7:11813
pubmed: 27283905
J Biol Chem. 2012 Jun 29;287(27):23057-67
pubmed: 22549783
Nat Immunol. 2009 Oct;10(10):1073-80
pubmed: 19701189
Gastroenterology. 2007 Nov;133(5):1510-21
pubmed: 17915219
Rheumatol Int. 2010 Jun;30(8):1121-4
pubmed: 20052476
Cell Rep. 2017 Jun 27;19(13):2756-2770
pubmed: 28658623
Nat Immunol. 2004 Aug;5(8):800-8
pubmed: 15220916
Science. 2005 Feb 4;307(5710):731-4
pubmed: 15692051
Invest Ophthalmol Vis Sci. 2011 Jun 09;52(7):4106-12
pubmed: 21296813
Inflammation. 2015 Feb;38(1):272-7
pubmed: 25278013
Blood. 2005 Feb 1;105(3):1195-7
pubmed: 15459013
Ann Rheum Dis. 2020 Nov;79(11):1492-1499
pubmed: 32647028
J Clin Invest. 2013 Feb;123(2):700-11
pubmed: 23281400
J Allergy Clin Immunol. 2018 Jan;141(1):339-349.e11
pubmed: 28587749
J Immunol. 2015 Jan 1;194(1):349-57
pubmed: 25429073
Arthritis Rheum. 2009 Feb;60(2):611-8
pubmed: 19180500
Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19440-5
pubmed: 18032608
Mucosal Immunol. 2014 Nov;7(6):1312-25
pubmed: 24670424
Biosci Rep. 2012 Dec;32(6):597-608
pubmed: 22908883