Skewed Xinactivation in a Female Carrier with Xlinked Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with XlinkedCGD attributed to an extremely skewed Xchromosome inactivation. This condition is characterized by severe and recurrent infections that usually develop after childhood. In clinical practice, physicians who usually confront these patients should suspect this entity and differentiate it from a secondary immunodeficiency. Here, we report a 38yearold Mexican female with juvenileonset X linkedCGD, caused by a de novo mutation and extremely skewed Xinactivation, whose clinical features were similar to those in patients with classic XlinkedCDG.