Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

doi:10.1038/s41467-024-48287-0

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Article

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Nature communications - 10 May 2024

Bibert Stéphanie, Quinodoz Mathieu, Perriot Sylvain, Krebs Fanny S, Jan Maxime, Malta Rita C, Collinet Emilie, Canales Mathieu, Mathias Amandine, Faignart Nicole, Roulet-Perez Eliane, Meylan Pascal, Brouillet René, Opota Onya, Lozano-Calderon Leyder, Fellmann Florence, Guex Nicolas, Zoete Vincent, Asner Sandra, Rivolta Carlo, Du Pasquier Renaud, Bochud Pierre-Yves

Abstract excerpt

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...

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Identifiers

PMID: 38730242
DOI: 10.1038/s41467-024-48287-0
PMCID: PMC11087577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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