Baştürk, BilkayKılıç, Sara Şebnem2024-09-202024-09-202007-01-012147-2092https://hdl.handle.net/11452/44977Introduction: 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.Purpose: Patients with CGD are susceptible to bacterial and fungal pathogens, 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 polymorphisms.Patients and Methods: Four patients with CGD and 60 healthy controls were enrolled in this study. All genotyping (TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-.) studies were performed using sequence-specific primers (PCRSSP).Results: Frequencies of IL-10 (-1082, -819, -592) ACC/ATA polymorphism were significantly greater in the patients with CGD.Conclusion: The results suggest that the IL-10 ACC/ATA polymorphism is associated with granuloma formation.eninfo:eu-repo/semantics/closedAccessCytokineGene polymorphismChronic granulomatous diseaseScience & technologyLife sciences & biomedicineMedicine, general & internalGeneral & internal medicineArticle0002173112000031517181