TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis

J Infect Dis. 2017 May 1;215(9):1430-1434. doi: 10.1093/infdis/jix166.

Abstract

Defects in genes of the Toll-like receptor 3 (TLR3) pathway are associated with susceptibility to herpes simplex virus type 1 encephalitis (HSE). We analyzed a cohort of 11 adult Italian patients in whom viral encephalitis developed. We detected 2 rare missense mutations in TLR3: 1 in a patient with HSE (p.Leu297Val) and 1 in a patient with varicella-zoster virus encephalitis (p.Leu199Phe). Both mutations are extremely rare in human populations and have pathogenicity scores highly suggestive of a functional effect. Data herein expand the phenotypic spectrum of TLR3 mutations to varicella-zoster virus encephalitis and support the role of TLR3 genetic defects as risk factors for HSE in adults.

Keywords: TLR3; adult patients.; herpes simplex virus encephalitis; varicella-zoster virus encephalitis.

MeSH terms

  • Adult
  • Aged
  • Cohort Studies
  • Encephalitis, Varicella Zoster / genetics*
  • Female
  • Herpes Simplex / genetics*
  • Herpesvirus 3, Human
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Simplexvirus
  • Toll-Like Receptor 3 / chemistry
  • Toll-Like Receptor 3 / genetics*

Substances

  • TLR3 protein, human
  • Toll-Like Receptor 3