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Chronic Granulomatous Disease (CGD)

Clinical Features and Laboratory Testing


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Clinical Features

Slide 9

January 2010

The characteristic clinical features of CGD include recurrent infections, especially those involving the skin, lungs, lymph nodes and liver. In particular, osteomyelitis, gingivitis and perianal and perirectal abscesses are common.

It is quite remarkable that the infectious etiology in CGD is largely confined to 5 pathogens -Staphylococcus aureus, Burkholderia.(Pseudomonas) cepacia, Serratia sp., Nocardia sp., Aspergillus sp. Not surprisingly, CGD patients are most commonly infected with catalase+ microorganisms. This is due to the fact that most microbes spontaneously generate their own hydrogen peroxide, but, catalase + microbes degrade their own hydrogen peroxide into water and oxygen which is not possible with catalase negative microbes.

Infections with catalase negative microbes allow the generation of hydrogen peroxide which is harnessed by host phagocytes and can compensate for the defective NADPH oxidase enzyme in CGD patients. Treatment of CGD is typically managed using a triple regimen of bactrim, itraconazole, and IFN-gamma. Other therapeutic approaches may be used depending on the clinical context.

Clinical Features


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