X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability

BackgroundChronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65% to 70% of cases in Western countries.ObjectiveWe sought to understand the clinical manifestations associated with the X-linked CGD carrier state.MethodsWe undertook a comprehensive retrospective study of 162 affected female subjects. We...