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Herpes simplex encephalitis, susceptibility to, 4(IIAE6)

MedGen UID:
766783
Concept ID:
C3553869
Finding
Synonyms: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6; IIAE6
 
Gene (location): TICAM1 (19p13.3)
 
Monarch Initiative: MONDO:0013921
OMIM®: 614850

Definition

A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the TICAM1 gene. [from MONDO]

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 aphthous stomatitis
MedGen UID:
445425
Concept ID:
C2937365
Disease or Syndrome
Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.

Professional guidelines

PubMed

Lin WR, Wozniak MA, Esiri MM, Klenerman P, Itzhaki RF
J Neurol Neurosurg Psychiatry 2001 Jan;70(1):117-9. doi: 10.1136/jnnp.70.1.117. PMID: 11118260Free PMC Article

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
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
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
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
Itzhaki RF, Cosby SL, Wozniak MA
J Neurovirol 2008 Jan;14(1):1-4. doi: 10.1080/13550280701802543. PMID: 18300070

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
Mitterreiter JG, Titulaer MJ, van Nierop GP, van Kampen JJ, Aron GI, Osterhaus AD, Verjans GM, Ouwendijk WJ
PLoS One 2016;11(5):e0155531. Epub 2016 May 12 doi: 10.1371/journal.pone.0155531. PMID: 27171421Free PMC Article
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
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

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
Adamo MA, Abraham L, Pollack IF
J Neurosurg Pediatr 2011 Oct;8(4):402-6. doi: 10.3171/2011.7.PEDS10393. PMID: 21961549
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
Telenti A
Curr Opin HIV AIDS 2009 Mar;4(2):131-5. doi: 10.1097/COH.0b013e3283223d76. PMID: 19339952

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

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
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
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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