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Chronic Granulomatous Disease (CGD)

Clinical Features and Laboratory Testing


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Symptomatic Female Carrier with CGD

Slide 15

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.

Female Carrier


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