TICAM1 deficiency - HSE

Inborn errors of interferon immunity due to defects in toll like receptor 3 (TLR3)-mediated signaling underlie pathogenesis of herpes simplex virus type 1 (HSV1) encephalitis (HSE) in some children (Netea MG et al. 2012). Autosomal dominant (AD) and recessive (AR) deficiencies of (TIR) domain-containing adaptor inducing IFN-beta (TRIF or TICAM1) are also associated with impaired IFN production and predisposition to HSE in the course of primary infection by HSV1 (Sancho-Shimizu V et al. 2011).

某些儿童单纯疱疹病毒1型（HSV1）脑炎（HSE）的发病机制源于干扰素免疫的先天性缺陷，该缺陷是由于Toll样受体3（TLR3）介导的信号传导缺陷所致（Netea MG 等人，2012年）。此外，TIR结构域含有的适配器诱导IFN-β（TRIF或TICAM1）的常染色体显性（AD）和隐性（AR）缺陷也与HSV1原发性感染过程中IFN产生受损和HSE易感性增加有关（Sancho-Shimizu V 等人，2011年）。