Diagnosis

The simplest and most rapid test for CGD is the NBT (nitroblue tetrazolium) test. Neutrophils from a small sample of peripheral blood are activated to produce superoxide which is detected by the NBT, which is converted from a yellow water-soluble compound to a dark-blue insoluble formazan that can be clearly detected microscopically. This slide test can be useful for detecting the X-linked type of disease in which the carrier mothers have a mosaic of normal and abnormal cells in their circulation. The respiratory burst can be accurately quantitated by measuring oxygen consumption with an oxygen electrode or superoxide generation by the reduction of cytochrome c in the presence and absence of superoxide dismutase. Immunological and molecular biological reagents are becoming available for the characterization of the nature of the defect in terms of the proteins and genes that are defective in each case.

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