Rheumatologic manifestations in an X-Linked chronic granulomatous disease carrier

Abstract

Chronic granulomatous disease (CGD) is a rare immunologic disorder caused by a defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex which consequentially causes immunodeficiency due to an inability to clear some bacteria and fungi. As with many other X-linked genetic conditions, X-linked chronic granulomatous disease (XL-CGD) carriers were thought to be genetic conveyors of disease but not clinically affected. However, recent literature has revealed that XL-CGD carriers can have a marked and debilitating clinical phenotype. Herein, we describe various rheumatologic manifestations in a female X-linked CGD carrier with skewed Lyonization. Her story underscores the autoimmune and inflammatory phenomena that can be associated with XL-CGD carrier state and the complexity of treatment considerations for these manifestations.