PMC6873422_01
Deficiency of p67phox in a child with AR CGD. a Family pedigree. The arrow indicates the proband. Each generation is designated by a Roman numeral (I, II). Blackened symbols denote the affected family members. m mutation, WT wild type. b Scars of previous surgically drained perianal abscesses and a perianal fistula opening at the 12 o'clock position (arrow)
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PMC6873422_01_13223_2019_386_Fig1_HTML.jpg
Fig1
Perineal examination revealed inflammation, multiple scars of drained perianal abscesses and a perianal fistula opening (Fig. 1). 
Neutrophil oxidative burst test using DHR. The top graphs represent the unstimulated cells, while the bottom graphs are cells stimulated using PMA. a The patient showed an absence of reactivity after PMA stimulation, consistent with CGD. b Normal neutrophil respiratory burst showing a complete shift in fluorescence after stimulation in a healthy control. DHR dihydrorhodamine-1,2,3; PMA phorbol myristate acetate; CGD chronic granulomatous disease
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PMC6873422_01_13223_2019_386_Fig2_HTML.jpg
Fig2
In view of her presentation and the early colitis symptoms, she was further evaluated, and a diagnosis of CGD was made based on the oxidative burst assay [dihydrorhodamine-1,2,3 (DHR) flow cytometry test], which revealed an absence of NADPH oxidase activity in the patient's neutrophils upon phorbol myristate acetate (PMA) stimulation (Fig. 2).