Immundeficiency 83 D84.-

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.

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)

1. Lim HK et al (2019) Severe influenza pneumonitis in children with inherited TLR3 deficiency. J Exp Med 216: 2038-2056.
2. 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.
3. 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.
4. Zhang S-Y et al (2013) TLR3 immunity to infection in mice and humans. Curr. Opin. Immunol. 25: 19-33.