Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.

doi:10.1084/jem.20111316

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Article

Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.

The Journal of experimental medicine - 27 Aug 2012

Herman Melina, Ciancanelli Michael, Ou Yi-Hung, Lorenzo Lazaro, Klaudel-Dreszler Maja, Pauwels Elodie, Sancho-Shimizu Vanessa, Pérez de Diego Rebeca, Abhyankar Avinash, Israelsson Elisabeth, Guo Yiqi, Cardon Annabelle, Rozenberg Flore, Lebon Pierre, Tardieu Marc, Heropolitanska-Pliszka Edyta, Chaussabel Damien, White Michael A, Abel Laurent, Zhang Shen-Ying, Casanova Jean-Laurent

Abstract excerpt

Childhood herpes simplex virus-1 (HSV-1) encephalitis (HSE) may result from single-gene inborn errors of TLR3 immunity. TLR3-dependent induction of IFN-α/β or IFN-λ is crucial for protective immunity against primary HSV-1 infection in the central nervous system (CNS). We describe here two unrelated children with HSE carrying different heterozygous mutations (D50A and G159A) in TBK1, the gene encoding TANK-binding...

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Identifiers

PMID: 22851595
DOI: 10.1084/jem.20111316
PMCID: PMC3428952

Genes

TBK1
TLR3
TANK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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