Impaired signaling pathways on Berardinelli–Seip congenital lipodystrophy macrophages during Leishmania infantum infection

This was an in vitro experimental study of monocytes-derived macrophages from blood samples of BSCL individuals (type I - AGPAT2, type II - BSCL2, and heterozygous - BSCL2), and healthy controls (WT). Samples were infected with L. infantum. In the control group, there are monocytes-derived macrophages from individuals WT with and without a history of visceral leishmaniasis (VL). RNA-seq was done to identify the different group responses to the infection. Overall design: Monocyte-derived macrophage samples from BSCL individuals (type I and II, and type II heterozygous) and wild type (WT with and without an LV history) were infected with L. infantum. Both infected and non-infected mRNA samples were sequenced, each containing three experimental replicates (with the exception of participant 6, who has only an experimental duplicate in the infected sample).