Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA, RAB27A, or melanophilin genes. GS1 associates characteristic albinism with a severe primary neurological impairment. GS2 is characterized by the hypopigmentation associated with an immune defect, leading to episodes of a life-threatening uncontrolled T lymphocyte and macrophage activation syndrome.
