RNA-seq of human donors with severe type 1 interferonopathy due to germline STAT2 gain-of-function

Patients with type 1 interferonopathies due to mutations in one of 10 genes were recruited over the course of 4 years. All patients had raised levels of interferon stimulated genes as determined by qPCR. A transcriptome analysis was carried out to compare levels of interferon stimulated genes in the patient with a mutation in STAT2, compared to patients with mutations in other interferonopathy genes.