Type I Interferonopathies: Common Pathological Features Between Congenital Infections and Genetic Disorders
The persistent upregulation of type I interferon through nucleic acid sensing contributes greatly to immunopathogenesis of congenital infections such as congenital cytomegalovirus infection as well as genetic defects in any of the elements involved in the endogenous nucleic acid clearance system. Type I interferon is neurotoxic to the developing brain, and proinflammatory responses also affect the central nervous system; therefore, encephalopathy is one of the most devastating clinical features of type I interferonopathies of either infectious or genetic causes.
KeywordsAicardi-Goutieres syndrome Cytomegalovirus TORCH syndrome TREX1 Type I interferon
- Crow YJ, Chase DS, Schmidt JL et al (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEHH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Hum Genet A 167A:296–312Google Scholar