Transcriptional profiling of macrophages in Blau syndrome

We aimed to characterize the transcriptional profiles of macrophages generated from peripheral blood monocytes of Blau syndrome patients, untreated or treated with anti-TNF antibodies. Given our previous finding that IFNg stimulation is a key priming signal for Blau syndrome-associated inflammatory responses, we conducted RNA-seq with or without IFNg stimulation. Moreover, we generated patients' iPSC-derived macrophages and compared the transcriptional profiles with WT counterparts.