TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis
The Journal of Infectious Diseases, 2017•academic.oup.com
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 …
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 …
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.
Oxford University Press