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Functional assays for the diagnosis of chronic granulomatous disease
Debra Long Priel1, Karen Lau1, Danielle L Fink1
1Clinical Services Program, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, United States of America.
Abstract:
Chronic granulomatous disease (CGD) is a rare immunodeficiency characterized by recurrent bacterial and fungal infections that are attributed to reduced production of reactive oxygen species (ROS) by a multi-component enzyme complex known as the phagocyte NADPH oxidase or NOX2. Presented in this review are descriptions of several assays that assess the production of ROS as well as assays that characterize the expression of specific proteins of NOX2.
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