KEGG   DISEASE: Infection-induced acute encephalopathy
Entry
H02536                      Disease                                
Name
Infection-induced acute encephalopathy
  Subgroup
Herpes simplex encephalitis (HSE)
Acute necrotizing encephalopathy (ADANE)
Description
Infection-induced acute encephalopathy (IIAE) is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, such as influenza, parainfluenza, and herpes simplex virus. It is possible that genetic factors play an important role in the aetiology of IIAE. For example, herpes simplex encephalitis (HSE) has been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3.
Category
Nervous system disease; Infectious disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 01 Certain infectious or parasitic diseases
  Viral infections of the central nervous system
   1C80  Viral encephalitis not elsewhere classified
    H02536  Infection-induced acute encephalopathy
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06527  Necroptosis
   H02536  Infection-induced acute encephalopathy
 Immune system
  nt06517  TLR signaling
   H02536  Infection-induced acute encephalopathy
Pathway
hsa04620  Toll-like receptor signaling pathway
hsa04621  NOD-like receptor signaling pathway
hsa05164  Influenza A
hsa05168  Herpes simplex virus 1 infection
hsa04217  Necroptosis
Network
nt06517 TLR signaling
nt06527 Necroptosis
Gene
(IIAE1) UNC93B1 [HSA:81622] [KO:K26150]
(IIAE2) TLR3 [HSA:7098] [KO:K05401]
(IIAE3) RANBP2 [HSA:5903] [KO:K12172]
(IIAE4) CPT2 [HSA:1376] [KO:K08766]
(IIAE5) TRAF3 [HSA:7187] [KO:K03174]
(IIAE6) TICAM1 [HSA:148022] [KO:K05842]
(IIAE7) IRF3 [HSA:3661] [KO:K05411]
(IIAE8) TBK1 [HSA:29110] [KO:K05410]
(IIAE9) NUP214 [HSA:8021] [KO:K14317]
(IIAE10) SNORA31 [HSA:677814] [KO:K26336]
(IIAE11) DBR1 [HSA:51163] [KO:K18328]
(IIAE12) RNH1 [HSA:6050] [KO:K16634]
Pathogen
Human herpesvirus 1 [GN:T40073]
Human herpesvirus 2 [GN:T40074]
Influenza A virus [GN:T40035 T40036 T40037 T40038]
influenza B virus [GN:T40039]
Human parainfluenza virus 2 [GN:T40042]
Other DBs
ICD-11: 1C80
MeSH: D000069544
OMIM: 610551 613002 608033 614212 614849 614850 616532 617900 618426 619396 619441 620461
Reference
  Authors
Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, Alcais A, Picard C, Mahfoufi N, Nicolas N, Lorenzo L, Plancoulaine S, Senechal B, Geissmann F, Tabeta K, Hoebe K, Du X, Miller RL, Heron B, Mignot C, de Villemeur TB, Lebon P, Dulac O, Rozenberg F, Beutler B, Tardieu M, Abel L, Casanova JL
  Title
Herpes simplex virus encephalitis in human UNC-93B deficiency.
  Journal
Science 314:308-12 (2006)
DOI:10.1126/science.1128346
Reference
  Authors
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
  Title
Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.
  Journal
Nature 491:769-73 (2012)
DOI:10.1038/nature11583
Reference
  Authors
Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML
  Title
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
  Journal
Am J Hum Genet 84:44-51 (2009)
DOI:10.1016/j.ajhg.2008.12.009
Reference
  Authors
Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H
  Title
Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
  Journal
FEBS Lett 579:2040-4 (2005)
DOI:10.1016/j.febslet.2005.02.050
Reference
  Authors
Mork N, Kofod-Olsen E, Sorensen KB, Bach E, Orntoft TF, Ostergaard L, Paludan SR, Christiansen M, Mogensen TH
  Title
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
  Journal
Genes Immun 16:552-66 (2015)
DOI:10.1038/gene.2015.46
Reference
PMID:31178128 (IIAE9)
  Authors
Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S
  Title
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
  Journal
Am J Hum Genet 105:48-64 (2019)
DOI:10.1016/j.ajhg.2019.05.003
Reference
PMID:31806906 (IIAE10)
  Authors
Lafaille FG, Harschnitz O, Lee YS, Zhang P, Hasek ML, Kerner G, Itan Y, Ewaleifoh O, Rapaport F, Carlile TM, Carter-Timofte ME, Paquet D, Dobbs K, Zimmer B, Gao D, Rojas-Duran MF, Kwart D, Rattina V, Ciancanelli MJ, McAlpine JL, Lorenzo L, Boucherit S, Rozenberg F, Halwani R, Henry B, Amenzoui N, Alsum Z, Marques L, Church JA, Al-Muhsen S, Tardieu M, Bousfiha AA, Paludan SR, Mogensen TH, Quintana-Murci L, Tessier-Lavigne M, Smith GA, Notarangelo LD, Studer L, Gilbert W, Abel L, Casanova JL, Zhang SY
  Title
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis.
  Journal
Nat Med 25:1873-1884 (2019)
DOI:10.1038/s41591-019-0672-3
Reference
PMID:29474921 (IIAE11)
  Authors
Zhang SY, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL
  Title
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
  Journal
Cell 172:952-965.e18 (2018)
DOI:10.1016/j.cell.2018.02.019
Reference
PMID:36935417 (IIAE12)
  Authors
Hedberg-Oldfors C, Mitra S, Molinaro A, Visuttijai K, Fogelstrand L, Oldfors A, Sterky FH, Darin N
  Title
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia.
  Journal
Eur J Hum Genet 31:887-894 (2023)
DOI:10.1038/s41431-023-01327-7
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