Type I interferonopathies in pediatric rheumatology.
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ABSTRACT:
SUBMITTER: Volpi S
PROVIDER: S-EPMC4893274 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Publications
Type I interferonopathies in pediatric rheumatology.
Volpi Stefano S Picco Paolo P Caorsi Roberta R Candotti Fabio F Gattorno Marco M
Pediatric rheumatology online journal 20160604 1
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 ...[more]
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