Chédiak–Higashi Syndrome- AR, LYST/CHS1 gene mutation (lysosomal trafficking regulator), defect in vesicle trafficking
- Giant intracytoplasmic granules (involving melanocytes, platelets, leukocytes)
- Onset at infancy: oculocutaneous albinism with immunologic deficiency, silvery metallic hair (clumps of melanin microscopically), recurrent infections, easy bruising, progressive neurologic deterioration, giant lysosomal granules, slate-gray skin color
- “Accelerated phase”: pancytopenia, lymphohistiocytic infiltration of reticuloendothelial system
- Treatment: stem cell transplantation
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