Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4

J Allergy Clin Immunol. 2019 May;143(5):1939-1943.e8. doi: 10.1016/j.jaci.2018.12.1012. Epub 2019 Jan 18.

Abstract

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature (CANDLE) is a rare autoinflammatory interferonopathy caused by additive loss-of-function mutations in proteasome genes. Mutations in the proteasome chaperone, PSMG2/PAC2 are a novel cause of CANDLE.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chaperonins / genetics*
  • Child
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Interferons
  • Molecular Chaperones / genetics*
  • Mutation
  • Proteasome Endopeptidase Complex / genetics*

Substances

  • Molecular Chaperones
  • PSMG2 protein, human
  • Interferons
  • Proteasome Endopeptidase Complex
  • Chaperonins

Supplementary concepts

  • chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature