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Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity
- Source :
- Hum Genet
- Publication Year :
- 2020
- Publisher :
- Springer Science and Business Media LLC, 2020.
-
Abstract
- 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-α/β 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.
- Subjects :
- Intrinsic immunity
Herpesvirus 1, Human
Biology
medicine.disease_cause
Article
03 medical and health sciences
Central Nervous System Diseases
Immunity
Genetics
medicine
Humans
Genetic Predisposition to Disease
Child
Genetics (clinical)
030304 developmental biology
Immunity, Cellular
0303 health sciences
Mutation
Viral encephalitis
030305 genetics & heredity
Herpes Simplex
medicine.disease
Penetrance
Human genetics
Herpes simplex virus
Host-Pathogen Interactions
Immunology
Encephalitis, Herpes Simplex
Encephalitis
Subjects
Details
- ISSN :
- 14321203 and 03406717
- Volume :
- 139
- Database :
- OpenAIRE
- Journal :
- Human Genetics
- Accession number :
- edsair.doi.dedup.....940999b3acc17c7bfd682c3c42e8d068