Transcriptomic profiling of AGS2, AGS5, AGS6 and COPA patients compared to healthy controls

In order to better understand AGS pathology we compared transcriptomic profiles of peripheral blood mononuclear cells from different mutated forms of AGS to an other type I IFN mediated syndrome, COPA. Patients were also compared to healthy individuals. Overall design: 2 patients AGS5, 2 patients AGS2, 2 patients AGS6, 2 patients COPA, 5 heatlhy individuals. Patients AGS5 n°1 were under reverse transcriptase inhibitor (RTI) tritherapy at time of sampling. Patient's blood AGS5 n°2 were sampled 2 times, before and after 1 month of RTI tritherapy. Librarie for patient n°2 with AGS5 before treatment and for healthy donor n°1 were generated twice on different experiments.