ABSTRACT

Chronic granulomatous disease (CGD) is a rare and fatal inherited immunodeficiency syndrome. Recurrent bacterial and fungal infections, abnormal inflammatory responses and granuloma formation are common.

Patients with CGD are susceptible to bacterial and fungal patho-gens, with associated dysregulated inflammation and widespread granuloma formation. The objective of this study was to evaluate the clinical presentation, granuloma formation and association with cytokine gene polymorp-hisms.

Four patients with CGD and 60 healthy controls were enrolled in this study. All genotyping (TNF-α, TGF-β, IL-10, IL-6, and IFN-γ) studies were performed using sequence-specific primers (PCR-SSP).

Frequencies of IL-10 (-1082, -819, -592) ACC/ATA polymorphism were significantly greater in the patients with CGD.

The results suggest that the IL-10 ACC/ATA polymorphism is associated with granuloma formation.