immunology allergic disorders
Chronic Granulomatous Disease (CGD)
Diagnosis of CGD
Flow cytometric oxidative (respiratory) burst assay Diagnosis of chronic granulomatous disease is by a flow cytometric oxidative (respiratory) burst assay to detect oxygen radical production using dihydrorhodamine 123 (DHR) or nitroblue tetrazolium (NBT). This test can also identify female carriers of the X-linked form and recessive forms. In these forms, the assay using DHR demonstrates 2 populations of phagocytes, normal and affected. Genetic testing is done to confirm the genetic defect but is not required to make the diagnosis. Siblings are usually screened using DHR. Hypergammaglobulinemia and anemia can occur; erythrocyte sedimentation rate is elevated. 