Type I interferonopathies in pediatric rheumatology

Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno

Research output: Contribution to journalReview articlepeer-review


Defective regulation of type I interferon response is associated with severe inflammatory phenotypes and autoimmunity. Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common. Recent studies have implicated abnormal responses to nucleic acid stimuli or defective regulation of downstream effector molecules in disease pathogenesis. As observed for IL1-β and autoinflammatory diseases, knowledge of the defects responsible for type I interferonopathies will likely promote the development of targeted therapy.

Original languageEnglish
Article number35
JournalPediatric Rheumatology
Issue number1
Publication statusPublished - Jun 4 2016


  • Aicardi-Goutières syndrome
  • Familial lupus
  • SAVI
  • Type I interferon
  • Type I interferonopathies

ASJC Scopus subject areas

  • Rheumatology
  • Immunology and Allergy
  • Pediatrics, Perinatology, and Child Health


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