@article{01KW9QC8K51RF69CMX53HYHG3B,
  abstract     = {{Varicella zoster virus (VZV) is a neurotropic member of the Herpesviridae family that causes varicella in primary infection and zoster during reactivation but in rare cases can lead to severe neurological complications, such as encephalitis. To identify inborn errors of immunity and unravel pathways involved in VZV central nervous system (CNS) immune responses and pathogenesis, we performed whole exome sequencing on a cohort of 38 children with neurological manifestations, including VZV encephalitis, cerebellitis, or stroke. We identified a total of 46 rare potentially pathogenic variants predicted to be deleterious, including variants in innate antiviral immunity, inflammation, cell stress responses, and autophagy. Collectively, these findings represent a knowledge base for further functional studies, provide new insights into the genetic landscape of VZV CNS infections, and highlight potential genetic defects that may compromise host defense, enabling new avenues for diagnosis and personalized treatment strategies for VZV CNS infections.

We performed whole exome sequencing of children with varicella zoster virus (VZV) encephalitis, cerebellitis, and stroke and identified potentially pathogenic variants in genes involved in innate antiviral immunity, inflammation, cell stress, and autophagy, collectively revealing essential pathways in human immunity against VZV.}},
  author       = {{Winzig, Franziska and De Keukeleere, Kerstin and Bartholomeus, Esther and Deconinck, Nicolas and Barrea, Christophe and Matthijs, Inge and Jansen, Anna C and Verhelst, Helene and Dielman, Charlotte and Kuznetsova, Maria and Ha, My and Suls, Arvid and van der Sluis, Renee M and Ogunjimi, Benson and Mogensen, Trine H}},
  issn         = {{0022-1899}},
  journal      = {{JOURNAL OF INFECTIOUS DISEASES}},
  keywords     = {{varicella zoster virus,encephalitis,stroke,inborn errors of immunity,whole exome sequencing,INBORN-ERRORS,AUTOPHAGY,INFLAMMATION,DEFICIENCY,INFECTION,IMMUNITY,PROTEIN,DISEASE,KINASE}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{510--520}},
  title        = {{Genetic landscape of a cohort of children with Varicella zoster virus encephalitis, cerebellitis, and stroke}},
  url          = {{http://doi.org/10.1093/infdis/jiaf448}},
  volume       = {{233}},
  year         = {{2026}},
}

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