Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

J Clin Invest. 2017 Sep 1;127(9):3543-3556. doi: 10.1172/JCI92280. Epub 2017 Aug 7.

Abstract

Varicella zoster virus (VZV) typically causes chickenpox upon primary infection. In rare cases, VZV can give rise to life-threatening disease in otherwise healthy people, but the immunological basis for this remains unexplained. We report 4 cases of acute severe VZV infection affecting the central nervous system or the lungs in unrelated, otherwise healthy children who are heterozygous for rare missense mutations in POLR3A (one patient), POLR3C (one patient), or both (two patients). POLR3A and POLR3C encode subunits of RNA polymerase III. Leukocytes from all 4 patients tested exhibited poor IFN induction in response to synthetic or VZV-derived DNA. Moreover, leukocytes from 3 of the patients displayed defective IFN production upon VZV infection and reduced control of VZV replication. These phenotypes were rescued by transduction with relevant WT alleles. This work demonstrates that monogenic or digenic POLR3A and POLR3C deficiencies confer increased susceptibility to severe VZV disease in otherwise healthy children, providing evidence for an essential role of a DNA sensor in human immunity.

MeSH terms

  • Alleles
  • Animals
  • Chickenpox / genetics*
  • Child
  • DNA Mutational Analysis
  • Gene Expression Regulation, Enzymologic
  • HEK293 Cells
  • Herpes Zoster / genetics*
  • Herpesvirus 3, Human
  • Heterozygote
  • Humans
  • Leukocytes / metabolism
  • Mice
  • Mutation*
  • Mutation, Missense
  • Phenotype
  • RNA Polymerase III / genetics*
  • RNA Polymerase III / metabolism*

Substances

  • RNA Polymerase III