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

Manuela Sironi, Anna Maria Peri, Rachele Cagliani, Diego Forni, Stefania Riva, Mara Biasin, Mario Clerici, Andrea Gori

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1430-1434
Number of pages5
JournalThe Journal of infectious diseases
Volume215
Issue number9
DOIs
Publication statusPublished - May 1 2017

Keywords

  • 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

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