Antigen presentation and lysosomal membrane traffic in the Chediak-Higashisyndrome

Chediak-Higashi syndrome is a rare human genetic disease causing severe imm unodeficiencies and defects in pigmentation. The mutated gene codes for a l arge cytosolic protein with several domains mediating protein-protein inter actions, playing a yet unclear role in endosomal membrane transport. Severa l genetic diseases with similar clinical characteristics (like the Griscell i, Hermansky-Pudlak, and Chediak-Higashi syndromes) also show related defec ts in intracellular membrane trafficking. Analyzing intracellular transport in cells from these patients shed light on the function of important playe rs in lysosomal membrane traffic in effector cells of the immune system.