Review Question - QID 106679

This patient is presenting with chronic granulomatous disease which is confirmed by a NEGATIVE nitroblue-tetrazolium (NBT) test (Illustration A).

Chronic granulomatous disease (CGD) is an immunodeficiency characterized by phagocytic dysfunction. The X-linked mutation causes a decrease in NADPH oxidase. This decreases the amount of reactive oxygen species and thus prevents the formation of the respiratory burst in neutrophils, which is necessary to combat infection. This increases patients' susceptibility to catalase positive organisms such as S. aureus, E. coli, and Aspergillus. Patient's with CGD are susceptible to these organisms, as these organisms have the ability to neutralize H2O2, leaving white blood cells without reactive oxygen species to fight infection. CGD is diagnosed by a NEGATIVE nitroblue-terazolium (NBT) test (Illustration A).

Illustration A demonstrates a negative NBT directly compared to an adjacent postive NBT test.

Incorrect Answers:
Answer 2: A normal dihydrorhodamine (DHR) flow cytometry test would indicate that a patient does NOT have CGD.
Answer 3: A positive nitroblue-tetrazolium test would indicate that a patient does NOT have CGD.
Answer 4: Increased IgM and decreased IgG, IgA, and IgE is observed in Hyper-IgM syndrome, which is characterized by severe pyogenic infections early in life.
Answer 5: Increased IgE and IgA and decreased IgM is observed in Wiskott-Aldrich syndrome, which is characterized by the triad of thrombocytopenic purpura, infections, and eczema.