Article
Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.
Blood - 1 Jan 2005
Wolach Baruch, Scharf Yitshak, Gavrieli Ronit, de Boer Martin, Roos Dirk
Abstract excerpt
Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte NADPH oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92]-->GGT), predicting...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.