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Herpes simplex encephalitis, susceptibility to, 3(IIAE5)

MedGen UID:
766782
•Concept ID:
C3553868
•
Finding
Synonym: IIAE5
 
Gene (location): TRAF3 (14q32.32)
 
Monarch Initiative: MONDO:0013920
OMIM®: 614849

Definition

A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TRAF3 gene. [from MONDO]

Clinical features

From HPO
Acute encephalopathy
MedGen UID:
224930
•Concept ID:
C1306587
•
Disease or Syndrome
A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Management of acyclovir-resistant herpes simplex virus.
Chilukuri S, Rosen T
Dermatol Clin 2003 Apr;21(2):311-20. doi: 10.1016/s0733-8635(02)00093-1. PMID: 12757254

Recent clinical studies

Etiology

Post-COVID-19 HSV encephalitis: a review.
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
Nectin-1 Is an Entry Mediator for Varicella-Zoster Virus Infection of Human Neurons.
Rajbhandari L, Shukla P, Jagdish B, Mandalla A, Li Q, Ali MA, Lee H, Lee G, Sadaoka T, Cohen JI, Venkatesan A
J Virol 2021 Oct 27;95(22):e0122721. Epub 2021 Sep 1 doi: 10.1128/JVI.01227-21. PMID: 34468169Free PMC Article
TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis.
Sironi M, Peri AM, Cagliani R, Forni D, Riva S, Biasin M, Clerici M, Gori A
J Infect Dis 2017 May 1;215(9):1430-1434. doi: 10.1093/infdis/jix166. PMID: 28368532
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.
Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY
Neurology 2014 Nov 18;83(21):1888-97. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000000999. PMID: 25339207Free PMC Article
Mendelian predisposition to herpes simplex encephalitis.
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

Diagnosis

TMEFF1 is a neuron-specific restriction factor for herpes simplex virus.
Dai Y, Idorn M, Serrero MC, Pan X, Thomsen EA, Narita R, Maimaitili M, Qian X, Iversen MB, Reinert LS, Flygaard RK, Chen M, Ding X, Zhang BC, Carter-Timofte ME, Lu Q, Jiang Z, Zhong Y, Zhang S, Da L, Zhu J, Denham M, Nissen P, Mogensen TH, Mikkelsen JG, Zhang SY, Casanova JL, Cai Y, Paludan SR
Nature 2024 Aug;632(8024):383-389. Epub 2024 Jul 24 doi: 10.1038/s41586-024-07670-z. PMID: 39048823
Post-COVID-19 HSV encephalitis: a review.
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
Immune-mediated encephalitis for the infectious disease specialist.
Venkatesan A
Curr Opin Infect Dis 2019 Jun;32(3):251-258. doi: 10.1097/QCO.0000000000000546. PMID: 31021956
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.
Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY
Neurology 2014 Nov 18;83(21):1888-97. Epub 2014 Oct 22 doi: 10.1212/WNL.0000000000000999. PMID: 25339207Free PMC Article
Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans.
Sancho-Shimizu V, Zhang SY, Abel L, Tardieu M, Rozenberg F, Jouanguy E, Casanova JL
Curr Opin Allergy Clin Immunol 2007 Dec;7(6):495-505. doi: 10.1097/ACI.0b013e3282f151d2. PMID: 17989525

Therapy

Post-COVID-19 HSV encephalitis: a review.
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
Immune-mediated encephalitis for the infectious disease specialist.
Venkatesan A
Curr Opin Infect Dis 2019 Jun;32(3):251-258. doi: 10.1097/QCO.0000000000000546. PMID: 31021956
Chronic granulomatous herpes encephalitis: a rare entity posing a diagnostic challenge.
Adamo MA, Abraham L, Pollack IF
J Neurosurg Pediatr 2011 Oct;8(4):402-6. doi: 10.3171/2011.7.PEDS10393. PMID: 21961549
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood.
Abel L, Plancoulaine S, Jouanguy E, Zhang SY, Mahfoufi N, Nicolas N, Sancho-Shimizu V, Alcaïs A, Guo Y, Cardon A, Boucherit S, Obach D, Clozel T, Lorenzo L, Amsallem D, Berquin P, Blanc T, Bost-Bru C, Chabrier S, Chabrol B, Cheuret E, Dulac O, Evrard P, Héron B, Lazaro L, Mancini J, Pedespan JM, Rivier F, Vallée L, Lebon P, Rozenberg F, Casanova JL, Tardieu M
J Pediatr 2010 Oct;157(4):623-9, 629.e1. Epub 2010 May 31 doi: 10.1016/j.jpeds.2010.04.020. PMID: 20553844
Management of acyclovir-resistant herpes simplex virus.
Chilukuri S, Rosen T
Dermatol Clin 2003 Apr;21(2):311-20. doi: 10.1016/s0733-8635(02)00093-1. PMID: 12757254

Prognosis

Association of G84A and C276T polymorphism in neuronal nitric oxide synthase (nNOS) gene with herpes simplex encephalitis in eastern Indian population.
Rathore SK, Pati P, Priyadarshini S, Dwibedi B
Nitric Oxide 2021 Mar 1;108:8-11. Epub 2020 Dec 19 doi: 10.1016/j.niox.2020.12.007. PMID: 33347982
Differential Detection of Enterovirus and Herpes Simplex Virus in Cerebrospinal Fluid by Real-Time RT-PCR.
Sarquiz-Martínez B, González-Bonilla CR, Santacruz-Tinoco CE, Muñoz-Medina JE, Pardavé-Alejandre HD, Barbosa-Cabrera E, Ramírez-González JE, Díaz-Quiñonez JA
Intervirology 2017;60(3):118-124. Epub 2017 Sep 28 doi: 10.1159/000480508. PMID: 28954265
Mendelian predisposition to herpes simplex encephalitis.
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
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD
Nature 2012 Nov 29;491(7426):769-73. Epub 2012 Oct 28 doi: 10.1038/nature11583. PMID: 23103873Free PMC Article
Epidemiology of Parkinson's disease--an overview.
Marttila RJ, Rinne UK
J Neural Transm 1981;51(1-2):135-48. doi: 10.1007/BF01664011. PMID: 7264626

Clinical prediction guides

TMEFF1 is a neuron-specific restriction factor for herpes simplex virus.
Dai Y, Idorn M, Serrero MC, Pan X, Thomsen EA, Narita R, Maimaitili M, Qian X, Iversen MB, Reinert LS, Flygaard RK, Chen M, Ding X, Zhang BC, Carter-Timofte ME, Lu Q, Jiang Z, Zhong Y, Zhang S, Da L, Zhu J, Denham M, Nissen P, Mogensen TH, Mikkelsen JG, Zhang SY, Casanova JL, Cai Y, Paludan SR
Nature 2024 Aug;632(8024):383-389. Epub 2024 Jul 24 doi: 10.1038/s41586-024-07670-z. PMID: 39048823
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.
Bibert S, Quinodoz M, Perriot S, Krebs FS, Jan M, Malta RC, Collinet E, Canales M, Mathias A, Faignart N, Roulet-Perez E, Meylan P, Brouillet R, Opota O, Lozano-Calderon L, Fellmann F, Guex N, Zoete V, Asner S, Rivolta C, Du Pasquier R, Bochud PY
Nat Commun 2024 May 10;15(1):3969. doi: 10.1038/s41467-024-48287-0. PMID: 38730242Free PMC Article
Post-COVID-19 HSV encephalitis: a review.
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
Differential Detection of Enterovirus and Herpes Simplex Virus in Cerebrospinal Fluid by Real-Time RT-PCR.
Sarquiz-Martínez B, González-Bonilla CR, Santacruz-Tinoco CE, Muñoz-Medina JE, Pardavé-Alejandre HD, Barbosa-Cabrera E, Ramírez-González JE, Díaz-Quiñonez JA
Intervirology 2017;60(3):118-124. Epub 2017 Sep 28 doi: 10.1159/000480508. PMID: 28954265
Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.
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
J Clin Invest 2011 Dec;121(12):4889-902. Epub 2011 Nov 21 doi: 10.1172/JCI59259. PMID: 22105173Free PMC Article

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