Article
Clinical, biochemical, and genetic characterization of Lebanese patients with chronic granulomatous disease due to NCF2 pathogenic variants.
Clinical immunology (Orlando, Fla.) - 1 Dec 2025
El-Orfali Youmna, Mardirossian Hagop, Al-Kalamouni Habib, El-Zein Zeinab, Dalle Samar, Khreis Dima, Haddara Amani, Hanna-Wakim Rima, Dbaibo Ghassan, Massaad Michel J
Abstract excerpt
Chronic Granulomatous Disease (CGD) is caused by mutations in the NADPH oxidase complex that impair the ability of phagocytes to eliminate injested pathogens. As a result, patients with CGD suffer from recurrent infections and chronic inflammation. We report the clinical, biochemical, and genetic basis of the disease in 17 CGD patients from Lebanon. Whole exome sequencing (WES) identified 2 distinct mutations in...
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