Genetic defects of brain immunity in childhood herpes simplex encephalitis

Nature. 2024 Nov;635(8039):563-573. doi: 10.1038/s41586-024-08119-z. Epub 2024 Nov 20.

Abstract

Herpes simplex virus 1 (HSV-1) encephalitis (HSE) is the most common sporadic viral encephalitis in humans. It is life-threatening and has a first peak of incidence in childhood, during primary infection. Children with HSE are not particularly prone to other infections, including HSV-1 infections of tissues other than the brain. About 8-10% of childhood cases are due to monogenic inborn errors of 19 genes, two-thirds of which are recessive, and most of which display incomplete clinical penetrance. Childhood HSE can therefore be sporadic but genetic, enabling new diagnostic and therapeutic approaches. In this Review, we examine essential cellular and molecular mechanisms of cell-intrinsic antiviral immunity in the brain that are disrupted in individuals with HSE. These mechanisms include both known (such as mutations in the TLR3 pathway) and previously unknown (such as the TMEFF1 restriction factor) antiviral pathways, which may be dependent (for example, IFNAR1) or independent (for example, through RIPK3) of type I interferons. They operate in cortical or brainstem neurons, and underlie forebrain and brainstem infections, respectively. Conversely, the most severe inborn errors of leukocytes, including a complete lack of myeloid and/or lymphoid blood cells, do not underlie HSE. Thus congenital defects in intrinsic immunity in brain-resident neurons that underlie HSE broaden natural host defences against HSV-1 from the leukocytes of the immune system to other cells in the organism.

Publication types

  • Review

MeSH terms

  • Animals
  • Brain* / immunology
  • Brain* / pathology
  • Brain* / virology
  • Child
  • Encephalitis, Herpes Simplex* / genetics
  • Encephalitis, Herpes Simplex* / immunology
  • Herpesvirus 1, Human* / immunology
  • Humans
  • Neurons / immunology
  • Toll-Like Receptor 3 / deficiency
  • Toll-Like Receptor 3 / genetics

Substances

  • Toll-Like Receptor 3
  • TLR3 protein, human