Type I interferonopathies in pediatric rheumatology.
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.
U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy.
Stefano
S
Volpi
U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy.
Paolo
P
Picco
U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy.
Roberta
R
Caorsi
Division of Immunology and Allergy, University Hospital of Lausanne, Lausanne, Switzerland.
Fabio
F
Candotti
U.O. Pediatria 2, Istituto Giannina Gaslini, Genoa, Italy. marcogattorno@gaslini.org.
Marco
M
Gattorno
D001018:Aortic Diseases / Q000235:genetics / Q000276:immunology; D001171:Arthritis, Juvenile / Q000175:diagnosis / Q000276:immunology*; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics / Q000276:immunology* / Q000628:therapy; D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis / Q000276:immunology; D003744:Dental Enamel Hypoplasia / Q000235:genetics / Q000276:immunology; D006720:Homozygote; D006801:Humans; D007370:Interferon Type I / Q000235:genetics / Q000276:immunology*; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D008663:Metacarpus / Q000002:abnormalities / Q000276:immunology; D009135:Muscular Diseases / Q000235:genetics / Q000276:immunology; D009154:Mutation / Q000235:genetics / Q000276:immunology; D009421:Nervous System Malformations / Q000175:diagnosis / Q000276:immunology; D018126:Odontodysplasia / Q000235:genetics / Q000276:immunology; D010009:Osteochondrodysplasias / Q000235:genetics / Q000276:immunology; D010024:Osteoporosis / Q000235:genetics / Q000276:immunology; D020543:Proteome / Q000235:genetics / Q000276:immunology; D035583:Rare Diseases / Q000175:diagnosis / Q000276:immunology / Q000628:therapy; D015398:Signal Transduction; D061205:Vascular Calcification / Q000235:genetics / Q000276:immunology
D007370:Interferon Type I; D020543:Proteome
Aicardi-Goutières syndrome; CANDLE; Familial lupus; SAVI; Type I interferon; Type I interferonopathies