Pathogenesis of sarcoidosis

Many improvements have been obtained in understanding the immune and genetic mechanisms of sarcoidosis. Main immune abnormalities in this disease involve T lymphocytes, macrophages and dendritic cells. Interactions between these various immune cells through the immune synapse are tight. Environmental factors and genetic polymorphisms interact at molecular level in these immune targets. Recent pangenomic studies highlight some regions of the genome such as 6p21 where are located important immune genes: MHC, BTNL2 and TNF-α. Gene-environment interactions are important in this polymorphic disease. They need accurate clinical analysis for a better definition of patient subgroups and familial disease studies to progress in the role of genetic determinants.