Immunodeficiency-83 (IMD83) is characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). Causally, the disease is due to a mutaion in the TLR3 gene .The age of onset varies widely from infancy to adulthood, and there is incomplete penetrance.
Immundeficiency 83 D84.-
DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Susceptibility to encephalitis or pneumonia appears to result from impaired TLR3-dependent interferon production by non-hematopoietic cells located in the CNS or lung epithelial cells (Zhang et al. 2013; Mork et al. 2015; Sironi et al. 2017, Lim et al. 2019)
LiteratureThis section has been translated automatically.
- Lim HK et al (2019) Severe influenza pneumonitis in children with inherited TLR3 deficiency. J Exp Med 216: 2038-2056.
- Mork N et al (2015) Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis. Genes Immun 16: 552-566.
- Sironi M et al (2015) TLR3 mutations in adult patients with herpes simplex virus and varicella-zoster virus encephalitis. J Infect Dis 215: 1430-1434.
- Zhang S-Y et al (2013) TLR3 immunity to infection in mice and humans. Curr. Opin. Immunol. 25: 19-33.