Snapshot A 1-year-old boy presents with a persistent cough for the past 3 days. He has had multiple episodes of pneumonias and upper respiratory infections since being born. He has also had multiple skin infections. Finally, his medical chart reveals that his growth curve is in the 10th percentile for weight and 5th percentile for height, which is drastically different from his birth numbers, which were in the 50th percentile. A dihydrorhodamine test returns abnormal. Introduction Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of phagocytes Epidemiology Males > females due to inheritance pattern etiology Pathogenesis login to view 9 more bullets Genetics login to view 3 more bullets Presentation Symptoms login to view 10 more bullets Physical exam login to view 4 more bullets studies Flow cytometry reduction of dihydrorhodamine login to view 3 more bullets Nitroblue tetrazolium dye reduction test login to view 1 more bullet Cytochrome C reduction assay login to view 1 more bullet CBC login to view 1 more bullet ↑ IgG, IgM, and IGA Differential Diagnosis IgA deficiency HIV/AIDs Other primary immunodeficiencies Treatment Prevention login to view 2 more bullets Interferon-γ Antibacterial and antifungal prophylaxis Only curative therapy login to view 1 more bullet Complications Severe fungal infections are often determinant of survival Prognosis Improving with treatment 50% survival rate to age 30-40