Defect in lysosomal trafficking regulator gene (LYST).Microtubule dysfunction in phagosome-lysosome fusion.

- Autosomal recessive

- Lymphohistiocytosis- Partial albinism- Recurrent pyogenic infections by staphylococci and streptococci- Peripheral neuropathy: tingling and other paresthesias in limbs

- Giant granules in granulocytes and platelets- Pancytopenia- Mild coagulation defects