Preferred Label : Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1;
Symbol : IIAE1;
CISMeF acronym : IIAE1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Herpes simplex encephalitis, susceptibility to, 1;
Description : Herpes simplex virus (HSV)-1 is most often associated with infection of the oral mucosa.
Primary infection is most commonly asymptomatic, but it may lead to symptoms usually
involving the mucosa and skin. Following replication at the infection site, HSV-1
enters the epithelial endings of sensory neurons and travels up the trigeminal cranial
nerves to the trigeminal ganglia, where latent infection is established. Reactivation
of HSV-1, usually in the form of herpes labialis (cold sores), may occur in 20 to
40% of the population. HSV-1 seroprevalence is high, with over 85% of adults between
the ages of 20 and 40 years infected. HSV-1 rarely infects the central nervous system
(CNS), resulting in herpes simplex encephalitis (HSE), with an incidence of 2 to 4
per 1,000,000 people per year. In HSE, HSV-1 invades and replicates in neurons and
glial cells, where focal necrotizing infections occur, primarily affecting the temporal
and subfrontal regions of the brain. Untreated, HSE is fatal in at least 70% of cases,
although the mortality and morbidity have been drastically reduced with antiviral
therapy. Approximately one-third of all HSE cases are due to primary infections, and
30% of all HSE cases occur in children under the age of 20 years. Among children,
HSE peaks between 3 months and 3 years of age, coinciding with the time of primary
infection. In a subset of children, HSE results from a series of monogenic primary
immunodeficiencies that impair UNC93B1- and TLR3 (603029)-dependent production of
IFNA (147660)/IFNB (147640) and IFNG (147570) in the CNS (Sancho-Shimizu et al., 2007).;
Prefixed ID : #610551;
Origin ID : 610551;
UMLS CUI : C2750180;
Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- Validated automatic mappings to NTBT
