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Chronic Granulomatous Disease (CGD)

Clinical Features and Laboratory Testing


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Autosomal Recessive CGD

Slide 16

January 2010

This slide reveals the neutrophil oxidative burst pattern for a young male patient with autosomal recessive CGD. As discussed previously, patients with AR-CGD, have a small population of neutrophils with partial oxidative burst as can be visualized in the lower right panel. The positive population on the right of the dividing line in that panel shows rather dim fluorescence on oxidation characteristic of AR-CGD. Further, there is also a negative population of neutrophils, for oxidative burst to the left of the dividing line in the lower right panel. This pattern can be tricky to recognize and should be correlated with clinical history and again confirmed by genetic testing.

It would be apropos to indicate here that there can be a number of confounding factors when interpreting the flow results for the DHR assay for neutrophil oxidative burst – age of sample (particularly if it is >48 hours old from the time of blood collection), transport conditions (since neutrophils are exceedingly labile in their activation status and proneness to early cell death, a shipping control is essential for any sample sent from outside the location of the testing laboratory), and presence of intrinsic neutropenia (this test should not be ordered in patients with profound neutropenia and rather other tests to evaluate for congenital or acquired neutropenias should be ordered).

Autosomal Recessive


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