Mutations in LYST result in Chédiak-Higashi syndrome (CHS; MIM 214500), a rare autosomal recessive disorder typically characterized by immune dysfunction in early childhood, partial oculocutaneous albinism and other pigmentary abnormalities, and, in survivors of the accelerated phase of immune deterioration, late-onset neurologic dysfunction. Here, LYST is linked to Chediak-Higashi syndrome.