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- Title
TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis.
- Authors
Sironi, Manuela; Peri, Anna Maria; Cagliani, Rachele; Forni, Diego; Riva, Stefania; Biasin, Mara; Clerici, Mario; Gori, Andrea
- 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.
- Subjects
HERPES simplex virus; GENETIC mutation; VARICELLA-zoster virus; ENCEPHALITIS; DISEASE risk factors
- Publication
Journal of Infectious Diseases, 2017, Vol 215, Issue 9, p1430
- ISSN
0022-1899
- Publication type
journal article
- DOI
10.1093/infdis/jix166