Type I interferonopathies in pediatric rheumatology

Citations of this article
Mendeley users who have this article in their library.


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.




Volpi, S., Picco, P., Caorsi, R., Candotti, F., & Gattorno, M. (2016, June 4). Type I interferonopathies in pediatric rheumatology. Pediatric Rheumatology. BioMed Central Ltd. https://doi.org/10.1186/s12969-016-0094-4

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free