Infection-induced acute encephalopathy

Definition:

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.

References:

[1]. Armanda Casrouge, et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science. 2006 Oct 13;314(5797):308-12. [Content Brief]

[2]. Boris Fichtman, et al. Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. Am J Hum Genet. 2019 Jul 3;105(1):48-64. [Content Brief]

[3]. Derek E Neilson, et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet. 2009 Jan;84(1):44-51. [Content Brief]

[4]. Fabien G Lafaille, et al. Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis. Nat Med. 2019 Dec;25(12):1873-1884. [Content Brief]

[5]. Fabien G Lafaille, et al. Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature. 2012 Nov 29;491(7426):769-73. [Content Brief]

[6]. N Mørk, et al. Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. Genes Immun. 2015 Dec;16(8):552-66. [Content Brief]

[7]. Shen-Ying Zhang, et al. Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection. Cell. 2018 Feb 22;172(5):952-965.e18. [Content Brief]

[8]. Y Chen, et al. Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett. 2005 Apr 11;579(10):2040-4. [Content Brief]

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