Chronic Granulomatous Disease (CGD)

Molecular Pathogenesis

January 2010

The molecular pathogenesis of CGD includes mutations in 4 of the genes that encode the NADPH oxidase complex.

Of these, the CYBB gene encoding the gp91phox is an X-linked gene and therefore, these mutations are inherited in an X-linked manner. Mutations in this gene account for the majority of the CGD cases (65-70%). Mutations in the p47phox, p67phox and p22phox are all inherited in an autosomal recessive manner and the accounts for 25%, 5% and 5% cases respectively.

The pathogenesis of CGD spans the spectrum of possible mutations including missense, nonsense, deletions, frameshift, splice site, intronic and regulatory variations.

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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?