TLR3 mutations in adult patients with herpes simplex virus and varicella-zoster virus encephalitis

Journal of Infectious Diseases

Volumn 215, Issue 9, 2017, Pages 1430-1434

  Sironi, Manuela ^a   Peri, Anna Maria ^b   Cagliani, Rachele ^a   Forni, Diego ^a   Riva, Stefania ^a   Biasin, Mara ^c   Clerici, Mario ^c,d   Gori, Andrea ^b  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

adult patients; herpes simplex virus encephalitis; TLR3; varicella zoster virus encephalitis

Indexed keywords

ACICLOVIR; LEUCINE; PHENYLALANINE; TOLL LIKE RECEPTOR 3; VALACICLOVIR; VALINE; TLR3 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; COMPUTER MODEL; FEMALE; GENE MUTATION; HERPES SIMPLEX ENCEPHALITIS; HERPES SIMPLEX VIRUS 1; HERPES ZOSTER ENCEPHALITIS; HUMAN; ITALIAN (CITIZEN); MALE; MIDDLE AGED; MISSENSE MUTATION; PRIORITY JOURNAL; TLR3 GENE; VARICELLA ZOSTER VIRUS; VIRUS VIRULENCE; CHEMISTRY; GENETICS; HERPES SIMPLEX; MUTATION; SIMPLEXVIRUS;

ADULT; AGED; COHORT STUDIES; ENCEPHALITIS, VARICELLA ZOSTER; FEMALE; HERPES SIMPLEX; HERPESVIRUS 3, HUMAN; HUMANS; MALE; MIDDLE AGED; MUTATION; SIMPLEXVIRUS; TOLL-LIKE RECEPTOR 3;

EID: 85022032134     PISSN: 00221899     EISSN: 15376613     Source Type: Journal    
DOI: 10.1093/infdis/jix166     Document Type: Article

References (15)

1. Steiner I, Kennedy PG, Pachner AR. The neurotropic herpes viruses: Herpes simplex and varicella-zoster. Lancet Neurol 2007; 6:1015-28.
2. Venkatesan A. Advances in infectious encephalitis: Etiologies, outcomes, and potential links with anti-NMDAR encephalitis. Curr Infect Dis Rep 2013; 15:594-9.
3. Lim HK, Seppanen M, Hautala T, et al. TLR3 deficiency in herpes simplex encephalitis: High allelic heterogeneity and recurrence risk. Neurology 2014; 83:1888-97.
4. Zhang SY, Jouanguy E, Ugolini S, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007; 317:1522-7.
5. Guo Y, Audry M, Ciancanelli M, et al. Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med 2011; 208:2083-98.
6. Zhang SY, Casanova JL. Inborn errors underlying herpes simplex encephalitis: From TLR3 to IRF3. J Exp Med 2015; 212:1342-3.
7. Abel L, Plancoulaine S, Jouanguy E, et al. Age-dependent mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr 2010;157:623-9, 629.e1.
8. Mork N, Kofod-Olsen E, Sorensen KB, et al. Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. Genes Immun 2015; 16:552-66.
9. Prehaud C, Megret F, Lafage M, Lafon M. Virus infection switches TLR-3-positive human neurons to become strong producers of beta interferon. J Virol 2005; 79:12893-904.
10. Goethals S, Ydens E, Timmerman V, Janssens S. Toll-like receptor expression in the peripheral nerve. Glia 2010; 58:1701-9.
11. Ioannidis NM, Rothstein JH, Pejaver V, et al. REVEL: An ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet 2016; 99:877-85.
12. Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014; 46:310-5.
13. Dong C, Wei P, Jian X, et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet 2015; 24:2125-37.
14. Wang K, Li M, Hakonarson H. ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38:e164.
15. Abel L, Plancoulaine S, Jouanguy E, et al. Age-dependent mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatr 2010;157:623-9, 629.e1.