Type I Interferonopathies: Common Pathological Features Between Congenital Infections and Genetic Disorders

  • Tatsuharu Sato
  • Masako Moriuchi
  • Hiroyuki MoriuchiEmail author


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.


Aicardi-Goutieres syndrome Cytomegalovirus TORCH syndrome TREX1 Type I interferon 


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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Tatsuharu Sato
    • 1
  • Masako Moriuchi
    • 1
  • Hiroyuki Moriuchi
    • 1
    Email author
  1. 1.Department of PediatricsNagasaki University Graduate School of Biomedical SciencesNagasakiJapan

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