A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

摘要

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder (PID) affecting NADPH oxidase activity. The rarest form of the disease is considered to be caused by gene bi‐allelic variant. Here, we report the clinical and molecular characterization of a patient presenting with early‐onset severe disease due to bi‐allelic variant.