TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

ABSTRACT:

Objective

To determine the proportion of children with herpes simplex encephalitis (HSE) displaying TLR3 deficiency, the extent of TLR3 allelic heterogeneity, and the specific clinical features of TLR3 deficiency.

Methods

We determined the sequence of all exons of TLR3 in 110 of the 120 patients with HSE enrolled in our study who do not carry any of the previously described HSE-predisposing mutations of TLR3 pathway genes (TLR3, UNC93B1, TRIF, TRAF3, and TBK1). All the new mutant TLR3 alleles detected were characterized experimentally in-depth to establish the causal relationship between the genotype and phenotype.

Results

In addition to the 3 previously reported TLR3-deficient patients from the same cohort, 6 other children or young adults with HSE carry 1 of 5 uniqu

SUBMITTER: Lim HK 

PROVIDER: S-EPMC4248460 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature