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 journalArticlepeer-review

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
JournalJournal of Infectious Diseases
Volume215
Issue number9
DOIs
Publication statusPublished - 2017

Keywords

  • adult patients
  • herpes simplex virus encephalitis
  • TLR3
  • varicella- zoster virus encephalitis

ASJC Scopus subject areas

  • Immunology and Allergy
  • Infectious Diseases

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