microtubule dysfunction in phagosome-lysosome fusion(defect in LYST(LYSosomal Trafficking regulator gene))
PLAIN
Progressive Neurodegeneration
Lymphohistocytosis
☆Albinism (partial)
recurrent pyogenic Infectioes
Peripheral Neuropathy (☆nystagmus)
☆Giant granules (arrows) in granulocytes and platelets.
Pancytopenia
Mild coagulation defects
immunology
UWorld
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