Phorbol myristate acetate stimulated NBT test: a simple method suitable for antenatal diagnosis of chronic granulomatous disease.

When endotoxin was compared with phorbol myristate acetate (PMA) for stimulation of phagocytes in the nitroblue tetrazolium (NBT) test, both methods discriminated between affected patients with X-linked chronic granulomatous disease (CGD) and controls, but only the PMA NBT test distinguished female carriers of CGD. Endotoxin provided no stimulation of normal fetal blood whereas PMA was an effective stimulator. Our results indicate the superiority of the PMA NBT test for diagnosis of patients and carriers of CGD and should allow accurate antenatal diagnosis of the disease.