Identification of type I interferonopathies using blood interferon signature: the experience of a pediatric rheumatology center
نویسندگان
چکیده
Methods We collected blood samples from a cohort of pediatric rheumatologic patients and scored them according to a qPCR based IFN gene signature assay. Expression of 6 type I IFN-related genes (IFI27, IFI44L, IFIT1, ISG15, RSAD2, SIGLEC1) was quantified by standard RTPCR techniques. An IFN score was calculated for each patient using the median fold change of gene expression related to a healthy control. Patients were selected based on the presence of the following features: i) atypical or incomplete SLE-like symptoms occurring in infancy or in preprepubertal age; ii) vasculopathy (skin ulcers, chilblains, strokes) iii) panniculitis with or without lypodystrophy iv) interstitial lung disease in the context of systemic inflammation.
منابع مشابه
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 ...
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