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 language | English |
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Pages (from-to) | 1430-1434 |
Number of pages | 5 |
Journal | Journal of Infectious Diseases |
Volume | 215 |
Issue number | 9 |
DOIs | |
Publication status | Published - 2017 |
Keywords
- adult patients
- herpes simplex virus encephalitis
- TLR3
- varicella- zoster virus encephalitis
ASJC Scopus subject areas
- Immunology and Allergy
- Infectious Diseases