The analysis of specific gene defects in disorders of phagocyte function has shed light on important aspects of the innate immune response. Each disorder has distinctive features in the clinical presentation and characteristic microbial pathogens. Chronic granulomatous disease has been extensively studied both in patient series and in mouse models. New insights continue to be obtained regarding the role of the nicotinamide dinucleotide phosphate (NADPH) oxidase and related enzymes in host defense and other aspects of the inflammatory response, as well as optimal management of this disorder. Approaches based on hematopoietic stem cell transplantation and gene therapy offer promise for the future, but are still under investigation. Also briefly summarized are updates on newly described leukocyte adhesion defects and on inherited susceptibility to mycobacterial infection due to defects in interleukin (IL)-12 and interferon-gamma pathways.


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