Chronic Granulomatous Disease (CGD)

Symptomatic Female Carrier with CGD

January 2010

This slide represents the DHR flow assay data from a 23 year-old female patient with a known family history of X-linked CGD and a personal clinical history of CGD and probably ulcerative colitis with recurrent abscesses and granulomas. The flow results reveal a slightly unusual carrier phenotype with two populations of neutrophils – one negative and the other positive for oxidative burst. In general, for carriers, the distribution of the positive and negative populations is 50% each, however, in this patient it was more of 30% to 70% positive to negative neutrophils for oxidative burst. However, the clinical history combined with the flow data clearly indicates a carrier female who also has a clinical phenotype due to skewed lyonization of the X-chromosome. Gene sequencing revealed the presence of a single copy (heterozygous) of the familial X-linked CYBB mutation.

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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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