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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.
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.

Professional guidelines

PubMed

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

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
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
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
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
Arkwright PD, Abinun M
Curr Opin Infect Dis 2008 Jun;21(3):217-22. doi: 10.1097/QCO.0b013e3282fa1824. PMID: 18448964

Diagnosis

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
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
Martinot M, Klein A, Demesmay K, Groza M, Mohseni-Zadeh M, Tebacher-Alt M, Fafi-Kremer S
Antivir Ther 2019;24(4):309-312. doi: 10.3851/IMP3313. PMID: 31081790
Venkatesan A
Curr Opin Infect Dis 2019 Jun;32(3):251-258. doi: 10.1097/QCO.0000000000000546. PMID: 31021956
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

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
Martinot M, Klein A, Demesmay K, Groza M, Mohseni-Zadeh M, Tebacher-Alt M, Fafi-Kremer S
Antivir Ther 2019;24(4):309-312. doi: 10.3851/IMP3313. PMID: 31081790
Venkatesan A
Curr Opin Infect Dis 2019 Jun;32(3):251-258. doi: 10.1097/QCO.0000000000000546. PMID: 31021956
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
Chilukuri S, Rosen T
Dermatol Clin 2003 Apr;21(2):311-20. doi: 10.1016/s0733-8635(02)00093-1. PMID: 12757254

Prognosis

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
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
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
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
Marttila RJ, Rinne UK
J Neural Transm 1981;51(1-2):135-48. doi: 10.1007/BF01664011. PMID: 7264626

Clinical prediction guides

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
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
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
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
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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