期刊
HUMAN GENETICS
卷 139, 期 6-7, 页码 911-918出版社
SPRINGER
DOI: 10.1007/s00439-020-02127-5
关键词
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资金
- National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Clinical and Translational Science Award (CTSA) program [UL1TR001866]
- NIH [R21NS084255, R01AI088364, R01NS072381]
- French National Research Agency (ANR) [ANR-14-CE14-0008-01, ANR-10-LABX-62-IBEID]
- French National Research Agency (ANR) (AAPG2018-SEAeHostFactors)
- French National Research Agency (ANR) (AAPG2019-CNSVIRGEN)
- Thrasher Research Fund
- Rockefeller University
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Paris Descartes University
- St Giles Foundation
Herpes simplex virus 1 (HSV-1) encephalitis (HSE) is the most common sporadic viral encephalitis in Western countries. Over the last 15 years, human genetic and immunological studies have provided proof-of-principle that childhood HSE can result from inborn errors of central nervous system (CNS)-specific, cell-intrinsic immunity to HSV-1. HSE-causing mutations of eight genes disrupt known (TLR3-dependent IFN-alpha/beta immunity) and novel (dependent on DBR1 or snoRNA31) antiviral mechanisms. Monogenic inborn errors confer susceptibility to forebrain (TLR3-IFN or snoRNA31) or brainstem (DBR1) HSE. Most of these disorders display incomplete clinical penetrance, with the possible exception of DBR1 deficiency. They account for a small, but non-negligible proportion of cases (about 7%). These findings pave the way for the gradual definition of the genetic and immunological architecture of childhood HSE, with both biological and clinical implications.
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