Type I interferonopathies: mendelian type I interferon up-regulation

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)7-12
Number of pages6
JournalCurrent Opinion in Immunology
Publication statusPublished - Feb 2015


  • Animals
  • Autoimmune Diseases
  • Autoimmune Diseases of the Nervous System
  • Complement C1q
  • Gene Expression Regulation
  • Genetic Association Studies
  • Humans
  • Interferon Type I
  • Mutation
  • Nervous System Malformations
  • Osteochondrodysplasias
  • Phenotype
  • Proteasome Endopeptidase Complex
  • STAT1 Transcription Factor
  • Signal Transduction
  • Up-Regulation
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review


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