Chronic Granulomatous Disease (CGD)

Clinical Features

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.

< Previous Slide

Clinical Features

Next Slide >

 

Jump to section:

• Introduction
• Primary Immunodeficiencies (PIDs): What Are They?
• Primary Immunodeficiencies (PIDs): What Are They?
• Relative Distribution of the PIDs
• Components and Kinetics of the Immune Response
• Mechanisms of Innate Immunity
• Defect in the Innate Immune System: Chronic Granulomatous Disease
• Molecular Pathogenesis
• Clinical Features
• Laboratory Diagnosis of Neutrophil Oxidative Burst
• Nitro Blue-Tetrazolium Test (NBT)
• Dihydrorhodamine (DHR) Flow Cytometric Assay for Diagnosis of CGD
• Neutrophil Oxidative Burst: Normal Individual
• X-linked CGD
• Symptomatic Female Carrier with CGD
• Autosomal Recessive CGD
• Autosomal Recessive CGD
• Laboratory Test Ordering Information
• Questions?