PMC6447646_01
Extended family pedigree of our patient with Chronic Granulomatous Disease illustrating the extensive family history of the disease. Square- Male, Darkened square- Affected male, Circle- Female, Dotted Circle- Carrier, Strikethrough- Deceased.
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F1
Subsequently, his mother learned about the CGD diagnosis of her sister's son (Figure 1).
Dihydrorhodamine test results for (A) the shipping control and (B) our patient with CGD showing fluorescence after incubation of serum sample with dihydrorhodamine and phorbol myristate acetate (PMA). Note the lack of fluorescence shift in B indicating lack of oxidative phosphorylation.
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F2
The DHR was grossly abnormal (Figure 2A, control; Figure 2B, patient) consistent with the diagnosis of CGD.