Bioinformatic Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini.
Division of Infectious Diseases, San Gerardo Hospital, University of Milano-Bicocca, Monza.
J Infect Dis. 2017 May 1;215(9):1430-1434. doi: 10.1093/infdis/jix166.
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.
Toll 样受体 3（TLR3）通路基因缺陷与单纯疱疹病毒 1 型脑炎（HSE）易感性相关。我们分析了 11 例意大利成年患者的队列，这些患者发生了病毒性脑炎。我们在 TLR3 中检测到 2 种罕见的错义突变：1 种在 HSE 患者中（p.Leu297Val），1 种在水痘带状疱疹病毒脑炎患者中（p.Leu199Phe）。这两种突变在人类中极为罕见，且其致病性评分高度提示具有功能效应。本文的数据将 TLR3 突变的表型谱扩展到水痘带状疱疹病毒脑炎，并支持 TLR3 遗传缺陷作为成人 HSE 的危险因素。
