Pneumocystis jirovecii pneumonia in a X-linked chronic granulomatous disease female carrier

Abstract

The X-chromosome linked (XL) female carriers of chronic granulomatous disease (CGD) are considered to have no risk for infection. Herein we present a female CGD XL-carrier who developed Pneumocystis jirovecii pneumonia and Serratia marcescens infection associated with age-related skewing of X-chromosome inactivation.

Keywords

• Chronic Granulomatous Disease
• X-linked carrier
• X-chromosome inactivation
• Neutrophils’ oxidative activity
• Pneumocystis jirovecii