Chronic Granulomatous Disease (CGD)

X-linked CGD

January 2010

This slide provides a typical example of flow data for neutrophil oxidative burst from a patient with X-linked CGD. In contrast to the previous slide, where the lower panel demonstrated a right shift of the neutrophils undergoing oxidative burst, there is absolutely no shift with the activated neutrophils indicating a complete lack of oxidative burst as would be expected from patients with the X-linked form of the disease. The 19 year-old male patient whose results are shown here had both the clinical features of CGD as well as a confirmed de novo mutation in the CYBB gene encoding the gp91phox protein by gene sequencing.

It should also be kept in mind that if there is a de novo mutation in an X-linked CGD patient, the mother will appear completely normal and will not demonstrate the usual carrier flow phenotype since this was not a germline mutation in the mother but arose spontaneously in this male offspring.

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X-linked CGD

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• 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
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