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Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
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Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
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Journal Article
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
2024
Overview
Encephalitis is a rare and potentially fatal manifestation of herpes simplex type 1 infection. Following genome-wide genetic analyses, we identified a previously uncharacterized and very rare heterozygous variant in the E3 ubiquitin ligase
WWP2
, in a 14-month-old girl with herpes simplex encephalitis. The p.R841H variant (NM_007014.4:c.2522G > A) impaired TLR3 mediated signaling in inducible pluripotent stem cells-derived neural precursor cells and neurons; cells bearing this mutation were also more susceptible to HSV-1 infection compared to control cells. The p.R841H variant increased TRIF ubiquitination in vitro. Antiviral immunity was rescued following the correction of p.R841H by CRISPR-Cas9 technology. Moreover, the introduction of p.R841H in wild type cells reduced such immunity, suggesting that this mutation is linked to the observed phenotypes.
Encephalitis is a rare and severe complication of Herpes Simplex type 1 infection. Here, Bibert et al describe a genetic variant in a 2-year-old affected child that impairs interferon production in neuronal cells and enhances viral replication.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 13/109
/ 38/23
/ 38/77
/ 45/22
/ 45/29
/ 45/88
/ 49/91
/ CRISPR
/ Encephalitis, Herpes Simplex - genetics
/ Female
/ Genomes
/ Herpesvirus 1, Human - genetics
/ Humanities and Social Sciences
/ Humans
/ Immunity
/ Induced Pluripotent Stem Cells - metabolism
/ Infant
/ Mutation
/ Neural Stem Cells - metabolism
/ Neural Stem Cells - virology
/ Science
/ Toll-Like Receptor 3 - genetics
/ Toll-Like Receptor 3 - metabolism
/ Ubiquitin-Protein Ligases - genetics
