| • | AR; giant lysosomal granules in a variety of cells |
| • | neutrophils – defective phagocytosis --> recurrent bacterial infections (Staph): skin, sinusitis, pneumonia |
| • | melanocytes – pigmentary dilution --> slate gray skin; hair light blond with silver sheen |
| • | neurons – progressive neurologic degeneration |
| • | diagnosis – CBC reveal giant granules in neutrophils |
| • | ddx – albinism, chronic granulomatous disease |
| • | prognosis – death by late childhood from overwhelming infection or hemorrhage during lymphoma-like phase |
| • | accelerated phase ~ 85% of patients; lymphoma-like |
| • | treatment - bone marrow transplant (early; before the accelerated phase takes place) |
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