A patient with chronic granulomatous disease (CGD) featuring a less severe defect in oxidative metabolism may not be diagnosed until late adolescence or adulthood.
The patient will have a history of recurrent infections since childhood, but these may be mild or may be ascribed to another cause.
Types of infections seen:
(1) recurrent infections in skin and subcutaneous tissue
(2) recurrent visceral infections
Other clinical findings:
(3) pulmonary fibrosis
The defect in oxidative metabolism is less severe than in the classic form, and white cells tend to show normal or near-normal bactericidal activity.
The differential diagnosis includes acquired defects in oxidative metabolism. These patients will not have a lifelong history of infection.
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Specialty: Hematology Oncology, Clinical Laboratory