Type I interferonopathies are a novel and expanding group of human inherited inflammatory disorders due to inappropriate stimulation or defective regulation of pattern-recognition receptors and consequent aberrant production of pro-inflammatory cytokines.
The test is based on the relative quantification of the expression of the IFI27, IFI44L, IFIT1, ISG15, RSAD2, and SIGLEC interferon-induced genes in RNA extracted from patient’s peripheral blood cells (interferon signature). An interferon score is then calculated for each patient using the median fold change of gene expression related to a healthy control (Rice GI et al., Lancet Neurol. 2013;12:1159).
This diagnostic test has been validated in our Service in cases of type I interferonopathies and healthy patients.
If you would like to request this test, you must send us a sample of 2.5 ml of peripheral blood in a PAXgene Blood RNA Tube and the “N°50-Immunologie form” of our laboratory. The tubes and the forms are available on request at 021/314.08.05. Please allow up to 48 hours for us to send you the tubes.
Once collected, the PAXgene tube must be received within 72 hours at room temperature. The analysis is performed at least once a week and is charged 503 CHF.
For clinical questions, please contact Professor Fabio Candotti (021/314.11.65) or for technical questions Cyril André (021/314.75.47).