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Herpes simplex encephalitis, susceptibility to, 1(IIAE1)

MedGen UID:
413772
Concept ID:
C2750180
Finding
Synonyms: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1; Herpes simplex encephalitis 1; IIAE1
 
Gene (location): UNC93B1 (11q13.2)
 
Monarch Initiative: MONDO:0024563
OMIM®: 610551

Definition

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 (summary by Sancho-Shimizu et al., 2007). Genetic Heterogeneity of Susceptibility to Acute Infection-Induced Encephalopathy, including Herpes Simplex Encephalitis (HSE) For other forms of susceptibility to acute infection-induced encephalopathy, see herpes-specific IIAE2 (613002), caused by mutation in the TLR3 gene (603029) on chromosome 4q35; IIAE3 (608033), caused by mutation in the RANBP2 gene (601181) on chromosome 2q12; IIAE4 (614212), caused by mutation in the CPT2 gene (600650) on chromosome 1p32; herpes-specific IIAE5 (614849), caused by mutation in the TRAF3 gene (601896) on chromosome 14q32; herpes-specific IIAE6 (614850), caused by mutation in the TICAM1 gene (607601) on chromosome 19p13; herpes-specific IIAE7 (616532), caused by mutation in the IRF3 gene (603734) on chromosome 19q13; herpes-specific IIAE8 (617900), caused by mutation in the TBK1 gene (604834) on chromosome 12q14; IIAE9 (618426), caused by mutation in the NUP214 gene (114350) on chromosome 9q34; herpes-specific IIAE10 (619396), caused by mutation in the SNORA31 (619378) on chromosome 13q14; IIAE11 (619441), caused by mutation in the DBR1 gene (607024) on chromosome 3q22; and IIAE12 (620461), caused by mutation in the RNH1 gene (173320) on chromosome 11p15. [from OMIM]

Clinical features

From HPO
Herpes simplex encephalitis
MedGen UID:
75794
Concept ID:
C0276226
Disease or Syndrome
Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.
Recurrent herpes
MedGen UID:
870750
Concept ID:
C4025207
Finding
Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Gupta S, Dutta A, Chakraborty U, Kumar R, Das D, Ray BK
QJM 2022 Apr 20;115(4):222-227. doi: 10.1093/qjmed/hcac060. PMID: 35199176Free PMC Article
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Diagnosis

Gupta S, Dutta A, Chakraborty U, Kumar R, Das D, Ray BK
QJM 2022 Apr 20;115(4):222-227. doi: 10.1093/qjmed/hcac060. PMID: 35199176Free PMC Article
Piret J, Boivin G
Clin Microbiol Rev 2020 Mar 18;33(2) Epub 2020 Feb 12 doi: 10.1128/CMR.00105-19. PMID: 32051176Free PMC Article
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Therapy

Gupta S, Dutta A, Chakraborty U, Kumar R, Das D, Ray BK
QJM 2022 Apr 20;115(4):222-227. doi: 10.1093/qjmed/hcac060. PMID: 35199176Free PMC Article
Piret J, Boivin G
Clin Microbiol Rev 2020 Mar 18;33(2) Epub 2020 Feb 12 doi: 10.1128/CMR.00105-19. PMID: 32051176Free PMC Article
Giraldo D, Wilcox DR, Longnecker R
DNA Cell Biol 2017 May;36(5):329-334. Epub 2017 Mar 9 doi: 10.1089/dna.2017.3668. PMID: 28278385Free PMC Article
Ramakrishna C, Newo AN, Shen YW, Cantin E
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Prognosis

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Nat Med 2019 Dec;25(12):1873-1884. Epub 2019 Dec 5 doi: 10.1038/s41591-019-0672-3. PMID: 31806906Free PMC Article
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Intervirology 2017;60(3):118-124. Epub 2017 Sep 28 doi: 10.1159/000480508. PMID: 28954265
Pérez de Diego R, Mulvey C, Casanova JL, Godovac-Zimmermann J
Expert Rev Proteomics 2014 Feb;11(1):21-9. Epub 2013 Dec 18 doi: 10.1586/14789450.2014.864954. PMID: 24351021Free PMC Article
Zhang SY, Abel L, Casanova JL
Handb Clin Neurol 2013;112:1091-7. doi: 10.1016/B978-0-444-52910-7.00027-1. PMID: 23622315
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Clinical prediction guides

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Gupta S, Dutta A, Chakraborty U, Kumar R, Das D, Ray BK
QJM 2022 Apr 20;115(4):222-227. doi: 10.1093/qjmed/hcac060. PMID: 35199176Free PMC Article
Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL
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Gordon P, Ronsen B, Brown ER
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