chronic granulomatous disease
Primary immunodeficiency affecting phagocyte function, characterized by recurrent bacterial and fungal infections with granuloma formation.
Full Definition
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder affecting the NADPH oxidase system in phagocytes, preventing the production of reactive oxygen species needed to kill certain pathogens. This results in recurrent, life-threatening infections with catalase-positive bacteria and fungi, particularly Staphylococcus aureus, Aspergillus species, and Burkholderia cepacia complex. The hallmark feature is granuloma formation in infected tissues. Most cases are X-linked, though autosomal recessive forms exist. Patients typically present in early childhood with pneumonia, lymphadenitis, liver abscesses, or osteomyelitis.
Usage
Usage note: Commonly abbreviated as CGD; diagnosis confirmed by DHR flow cytometry or NBT test.
In Context
- "The nitroblue tetrazolium test was negative, confirming the diagnosis of chronic granulomatous disease." — Laboratory report
- "Liver biopsy revealed characteristic granulomatous inflammation consistent with chronic granulomatous disease." — Pathology report