Evidence map›Paper›PMID 38730242›Full record

ArticleNature communications2024

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

Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S Krebs, Maxime Jan, Rita C Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart and 12 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Neuron-reactive KIRNature communications · 2025
    Article
  6. Review
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Stéphanie BibertInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0000-0001-5170-7506
Mathieu Quinodoz *Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Sylvain Perriot *Department of Clinical Neurosciences, Laboratory of Neuroimmunology, Neuroscience Research Centre, University Hospital and University of Lausanne, Lausanne, Switzerland.
Fanny S KrebsDepartment of Oncology UNIL-CHUV, Computer-Aided Molecular Engineering, University of Lausanne, Lausanne, Switzerland.
Maxime JanBioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0000-0001-6483-7430
Rita C MaltaPediatric Infectious Diseases and Vaccinology Unit, Woman-Mother-Child Department, University Hospital and University of Lausanne, Lausanne, Switzerland.
Emilie CollinetInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.
Mathieu CanalesDepartment of Clinical Neurosciences, Laboratory of Neuroimmunology, Neuroscience Research Centre, University Hospital and University of Lausanne, Lausanne, Switzerland.
Amandine MathiasDepartment of Clinical Neurosciences, Laboratory of Neuroimmunology, Neuroscience Research Centre, University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0009-0005-3604-5096
Nicole FaignartDepartment of Pediatrics, Child Neurology Unit, University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0000-0003-0039-3396
Eliane Roulet-PerezDepartment of Pediatrics, Child Neurology Unit, University Hospital and University of Lausanne, Lausanne, Switzerland.
Pascal MeylanInstitute of Microbiology, University Hospital and University of Lausanne, Lausanne, Switzerland.
René BrouilletInstitute of Microbiology, University Hospital and University of Lausanne, Lausanne, Switzerland.
Onya OpotaInstitute of Microbiology, University Hospital and University of Lausanne, Lausanne, Switzerland.
Leyder Lozano-CalderonInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.
Florence FellmannThe ColLaboratory, University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0000-0003-3156-4768
Nicolas GuexBioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.ORCID http://orcid.org/0000-0001-6023-0519
Vincent ZoeteDepartment of Oncology UNIL-CHUV, Computer-Aided Molecular Engineering, University of Lausanne, Lausanne, Switzerland.
Sandra AsnerInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID http://orcid.org/0000-0002-0733-9950
Renaud Du PasquierDepartment of Clinical Neurosciences, Laboratory of Neuroimmunology, Neuroscience Research Centre, University Hospital and University of Lausanne, Lausanne, Switzerland.
Pierre-Yves BochudInfectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland. Pierre-Yves.Bochud@chuv.ch.ORCID http://orcid.org/0000-0002-2208-4757

Funding

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Swiss National Science Foundation) 314730_192616Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Swiss National Science Foundation) 33IC30_179636
6 · The paper itself

Abstract

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.

Indexed as

Encephalitis, Herpes SimplexHerpesvirus 1, HumanMutationUbiquitin-Protein LigasesCRISPR-Cas SystemsFemaleHumansInduced Pluripotent Stem CellsInfantNeural Stem CellsNeuronsToll-Like Receptor 3UbiquitinationTLR3 protein, humanToll-Like Receptor 3Ubiquitin-Protein Ligases

Identifiers

PMID38730242
PMCPMC11087577

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.