Title |
Type I interferonopathies in pediatric rheumatology
|
---|---|
Published in |
Pediatric Rheumatology, June 2016
|
DOI | 10.1186/s12969-016-0094-4 |
Pubmed ID | |
Authors |
Stefano Volpi, Paolo Picco, Roberta Caorsi, Fabio Candotti, Marco Gattorno |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Singapore | 1 | 33% |
Australia | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Israel | 1 | <1% |
Spain | 1 | <1% |
France | 1 | <1% |
Unknown | 156 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 20 | 13% |
Student > Ph. D. Student | 19 | 12% |
Other | 17 | 11% |
Student > Doctoral Student | 15 | 9% |
Student > Postgraduate | 13 | 8% |
Other | 53 | 33% |
Unknown | 22 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 57 | 36% |
Immunology and Microbiology | 19 | 12% |
Biochemistry, Genetics and Molecular Biology | 15 | 9% |
Unspecified | 11 | 7% |
Agricultural and Biological Sciences | 9 | 6% |
Other | 18 | 11% |
Unknown | 30 | 19% |