Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Addison's disease
Anti-viral immunity
Autoimmunity
Immunodeficiency
Innate immunity
Toll-like receptor 3
Journal
Journal of translational autoimmunity
ISSN: 2589-9090
Titre abrégé: J Transl Autoimmun
Pays: Netherlands
ID NLM: 101759413
Informations de publication
Date de publication:
Apr 2019
Apr 2019
Historique:
received:
08
05
2019
revised:
16
05
2019
accepted:
19
05
2019
entrez:
4
8
2020
pubmed:
28
5
2019
medline:
28
5
2019
Statut:
epublish
Résumé
Autoimmune Addison's disease (AAD) is a classic organ-specific autoimmune disease characterized by an immune-mediated attack on the adrenal cortex. As most autoimmune diseases, AAD is believed to be caused by a combination of genetic and environmental factors, and probably interactions between the two. Persistent viral infections have been suggested to play a triggering role, by invoking inflammation and autoimmune destruction. The inability of clearing infections can be due to aberrations in innate immunity, including mutations in genes involved in the recognition of conserved microbial patterns. In a whole exome sequencing study of anonymized AAD patients, we discovered several rare variants predicted to be damaging in the gene encoding Toll-like receptor 3 (TLR3). TLR3 recognizes double stranded RNAs, and is therefore a major factor in antiviral defense. We here report the occurrence and functional characterization of five rare missense variants in
Identifiants
pubmed: 32743495
doi: 10.1016/j.jtauto.2019.100005
pii: S2589-9090(19)30005-X
pii: 100005
pmc: PMC7388336
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100005Informations de copyright
© 2019 The Authors.
Références
Autoimmun Rev. 2012 Mar;11(5):341-7
pubmed: 22024499
PLoS Genet. 2015 Apr 23;11(4):e1005165
pubmed: 25906071
J Immunol. 2014 Sep 1;193(5):2118-26
pubmed: 25063864
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Medicine (Baltimore). 2011 Jan;90(1):61-8
pubmed: 21200187
N Engl J Med. 2018 Mar 22;378(12):1132-1141
pubmed: 29562162
Eur J Endocrinol. 2014 Mar 08;170(4):519-27
pubmed: 24408902
J Cell Physiol. 2009 Dec;221(3):629-41
pubmed: 19688782
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
J Biol Chem. 2006 Apr 21;281(16):11144-51
pubmed: 16533755
Genes Immun. 2019 Jan;20(1):10-22
pubmed: 29217828
Sci Rep. 2018 May 30;8(1):8395
pubmed: 29849176
Arch Immunol Ther Exp (Warsz). 2016 Feb;64(1):83-7
pubmed: 26318769
Genes Immun. 2015 Dec;16(8):552-66
pubmed: 26513235
J Endocrinol Invest. 2004 Apr;27(4):380-6
pubmed: 15233561
Proc Natl Acad Sci U S A. 2006 Jun 6;103(23):8792-7
pubmed: 16720699
J Immunol. 2010 Aug 15;185(4):2080-8
pubmed: 20639488
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Nature. 2015 Oct 1;526(7571):82-90
pubmed: 26367797
Nat Rev Endocrinol. 2012 Jan 31;8(5):306-16
pubmed: 22290360
Nat Commun. 2018 Sep 27;9(1):3964
pubmed: 30262834
Mol Cell Endocrinol. 2013 Jan 5;365(1):75-83
pubmed: 22989785
Structure. 2011 Apr 13;19(4):447-59
pubmed: 21481769
Science. 2006 Jun 16;312(5780):1669-72
pubmed: 16709748
J Biol Chem. 2007 Jun 15;282(24):17696-705
pubmed: 17434873
Eur J Endocrinol. 2017 Apr;176(4):471-480
pubmed: 28223394
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
J Allergy Clin Immunol. 2011 Feb;127(2):528-31
pubmed: 21093032
Genes Immun. 2014 Apr;15(4):199-209
pubmed: 24622688
Nat Immunol. 2015 Apr;16(4):343-53
pubmed: 25789684
J Infect Dis. 2011 Feb 15;203(4):523-8
pubmed: 21216866
J Clin Endocrinol Metab. 2009 Dec;94(12):5117-24
pubmed: 19890026
Annu Rev Immunol. 2018 Apr 26;36:667-694
pubmed: 29677479
J Interferon Cytokine Res. 2015 Oct;35(10):759-70
pubmed: 25978633
Arch Virol. 2017 Jun;162(6):1717-1723
pubmed: 28190199
J Biol Chem. 2010 Jul 23;285(30):23208-23
pubmed: 20472559
Int J Immunogenet. 2016 Dec;43(6):383-390
pubmed: 27682462
PLoS One. 2017 Jan 3;12(1):e0169420
pubmed: 28046022
J Immunol Res. 2017;2017:1590653
pubmed: 28127569
Immunity. 2010 Mar 26;32(3):305-15
pubmed: 20346772
Nature. 2001 Oct 18;413(6857):732-8
pubmed: 11607032
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
J Exp Med. 2011 Sep 26;208(10):2083-98
pubmed: 21911422
J Biol Chem. 2010 Nov 19;285(47):36836-41
pubmed: 20861016
Neurology. 2014 Nov 18;83(21):1888-97
pubmed: 25339207
Nat Rev Endocrinol. 2009 Apr;5(4):219-26
pubmed: 19352320
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
J Gen Virol. 1986 Feb;67 ( Pt 2):309-20
pubmed: 3003239
J Clin Endocrinol Metab. 2009 Dec;94(12):4882-90
pubmed: 19858318
Clin Exp Immunol. 2019 Jan;195(1):52-63
pubmed: 30144040
Immunity. 2006 Sep;25(3):417-28
pubmed: 16973389
Mol Cell Endocrinol. 2011 Apr 10;336(1-2):180-90
pubmed: 21167251
Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10976-80
pubmed: 16043704
Am J Pathol. 1984 May;115(2):175-85
pubmed: 6372493
PLoS One. 2012;7(10):e46688
pubmed: 23056405
Nucleic Acids Res. 2017 Jul 3;45(W1):W550-W553
pubmed: 28431173
J Biol Chem. 2008 Aug 15;283(33):22787-94
pubmed: 18544529
Fold Des. 1997;2(1):67-75
pubmed: 9080200
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Nat Genet. 2014 Mar;46(3):310-5
pubmed: 24487276
J Biol Chem. 2007 Mar 9;282(10):7668-78
pubmed: 17209042
Science. 2008 Apr 18;320(5874):379-81
pubmed: 18420935
Eur J Endocrinol. 2013 Mar 15;168(4):609-14
pubmed: 23384710
Drug Discov Today. 2015 Dec;20(12):1419-21
pubmed: 26520668
J Neuroimmunol. 2018 Mar 15;316:65-73
pubmed: 29305044
J Infect Dis. 2017 May 1;215(9):1430-1434
pubmed: 28368532
Nat Rev Genet. 2010 Jun;11(6):415-25
pubmed: 20479773
Genes Immun. 2015 Sep;16(6):430-6
pubmed: 26204230
Bioinformatics. 2016 May 15;32(10):1592-4
pubmed: 26819469
J Exp Med. 2015 Aug 24;212(9):1371-9
pubmed: 26216125
Adv Pharm Bull. 2015 Dec;5(Suppl 1):605-14
pubmed: 26793605
J Clin Endocrinol Metab. 2016 Feb;101(2):364-89
pubmed: 26760044
Curr Protoc Hum Genet. 2013 Jan;Chapter 7:Unit7.20
pubmed: 23315928
Endocrine. 2017 Dec;58(3):521-527
pubmed: 29039147