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Chronic Granulomatous Disease (CGD)

Clinical Features and Laboratory Testing



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X-linked CGD

Slide 14

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.

X-linked CGD

 


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