Which syndrome is characterized by giant lysosomal granules in granulocytes, macrophages, and platelets, with partial albinism and recurrent infections?

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This item tests a lysosomal trafficking defect that causes giant lysosome-like granules in immune cells and platelets, along with pigmentary and infectious features. Chediak-Higashi syndrome arises from mutations in the LYST gene, which impairs the proper fusion and formation of lysosomes. As a result, neutrophils, macrophages, and platelets contain abnormally large granules. This disrupts phagosome-lysosome fusion, reducing the cell’s ability to kill ingested bacteria, leading to recurrent pyogenic infections. The pigment cells also fail to traffic melanosomes correctly, producing partial albinism, which explains the light or silvery hair and hypopigmented skin seen in affected individuals. Platelet granule defects contribute to bleeding tendencies as well. While other listed conditions involve albinism or immunodeficiency, they do not feature the characteristic giant lysosomal granules across granulocytes, macrophages, and platelets with the same infectious susceptibility, making this syndrome the best fit.