Transcription profiling of human dendritic cells from PLOSL patients show abnormalities in pathways of actin bundling and immune response

This study was aimed to identify pathways associated with loss-of-function of the DAP12/TREM2 receptor complex and thus gain insight into pathogenesis of PLOSL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy). Transcript profiles of PLOSL patients' DCs showed differential expression of genes involved in actin bundling and immune response, but also for the stability of myelin and bone remodeling. Experiment Overall Design: Transcript profiles of in vitro differentiated DCs of three controls and five PLOSL patients were analyzed.