Illumina HiSeq 4000 paired end sequencing; Severe type 1 interferonopathy due to germline STAT2 gain-of-function
Severe type 1 interferonopathy due to germline STAT2 gain-of-function
Whole blood was collected into PAXgene tubes (Qiagen, Valencia, CA). Written informed consent for the use of patient material was provided. Ethical approval was granted by the NRES Committee Leeds (East) (Ref: 07/Q1206/7). Samples were collected and RNAseq undertaken at 10 months (T14), 11 months(T15), 14 months (T16), 16 months (T17), 18 months and 11 days (T18), 18 months and 12 days (T19), 18 months and 14 days (T20), 18 months and 23 days (T21), and 20 months (T22). Treatment was commenced at 17 months of age with Dexamethasome at a dose of 10mg/m2. Subsequently at 18 months and 11 days of age Ruxolitinib was added at 2.5mg twice a day after the RNA sample was collected on that day. Samples were collected and RNAseq undertaken at 10 months (T14), 11 months (T15), 14 months (T16), 16 months (T17), 18 months and 11 days (T18), 18 months and 12 days (T19), 18 months and 14 days (T20), 18 months and 23 days (T21), and 20 months (T22).  Total RNA extracted using a PreAnalytix RNA isolation kit. RNA integrity was analysed on an Agilent 2100 Bioanalyzer.  Illumina Truseq stranded mRNA Assay. Paired end.