Work

Type I interferonopathies in pediatric rheumatology

Year: 2016

Type: review

Abstract: 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.

Source: Pediatric Rheumatology

DOI: 10.1186/s12969-016-0094-4

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

Institutions: Istituto Giannina Gaslini, Centre Hospitalier Universitaire Vaudois

Language: English

Topic: interferon and immune responses

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090