Type I interferonopathies: mendelian type I interferon up-regulation

Curr Opin Immunol. 2015 Feb;32:7-12. doi: 10.1016/j.coi.2014.10.005. Epub 2014 Oct 30.

Abstract

The concept of grouping Mendelian disorders associated with an up-regulation of type I interferon has only recently been suggested. Here we discuss the progress being made in the delineation and understanding of this novel set of inborn errors of immunity, the human type I interferonopathies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Autoimmune Diseases / diagnosis
  • Autoimmune Diseases / drug therapy
  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / metabolism
  • Autoimmune Diseases of the Nervous System / diagnosis
  • Autoimmune Diseases of the Nervous System / drug therapy
  • Autoimmune Diseases of the Nervous System / genetics
  • Autoimmune Diseases of the Nervous System / metabolism
  • Complement C1q / deficiency
  • Gene Expression Regulation*
  • Genetic Association Studies*
  • Humans
  • Interferon Type I / metabolism*
  • Mutation
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / drug therapy
  • Nervous System Malformations / genetics
  • Nervous System Malformations / metabolism
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / drug therapy
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / metabolism
  • Phenotype
  • Proteasome Endopeptidase Complex / genetics
  • Proteasome Endopeptidase Complex / metabolism
  • STAT1 Transcription Factor / genetics
  • STAT1 Transcription Factor / metabolism
  • Signal Transduction*
  • Up-Regulation

Substances

  • Interferon Type I
  • STAT1 Transcription Factor
  • Complement C1q
  • LMP7 protein
  • Proteasome Endopeptidase Complex

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Spondyloenchondrodysplasia