Final Report - NOVELPID (The genetic dissection of herpes simplex encephalitis (HSE) in children)
Project ID: 221272Funded under: FP7-PEOPLE
This is the final report for the NOVELPID project which hypothesised that at least a subset of childhood HSE patients suffer from a novel primary immunodeficiency specific to HSV-1. The report reveals how they have investigated HSE patients, for whom UNC93B and TLR3 deficiencies have been excluded, by candidate gene sequencing to identify other mutations underlying HSE. Through this approach, they have identified two different heterozygous non-synonymous mutations in HSE4, a candidate gene in the TLR3 signalling pathway, in two unrelated HSE patients P3, and P4, which were not found in over 1200 healthy controls sequenced.
Download application/msword (47616)
Record Number: 10423 / Last updated on: 2012-04-12