Chronic Granulomatous Disease (CGD)

Autosomal Recessive CGD

January 2010

This flow result for neutrophil oxidative burst on a young female patient reveals normal neutrophil function (ie oxidative burst) as evidenced by the fluorescence on activation in the lower right panel. The patient has a sister with a confirmed p47phox (NCF1 gene) mutation and autosomal recessive CGD. Genetic testing for the NCF1 gene in this patient revealed the presence of a heterozygous mutation, yet the neutrophil oxidative burst by flow was normal. This is very important to bear in mind – carriers of AR-CGD cannot be diagnosed by the flow cytometry method like carriers of X-linked CGD. Carriers of AR-CGD have one perfectly normal allele, which results in normal neutrophil oxidative burst and since 2 copies of the mutant allele are required for the clinical phenotype and failure in neutrophil function there is no evidence by flow cytometry of an aberrant population of neutrophils. Therefore, carriers of AR-CGD can only be identified by genetic testing of the target gene.

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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?