Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.
This month, we are featuring chronic granulomatous disease (CGD). CGD is a rare genetic disease that impacts the body’s immune system. When CGD is caused by a mutation in the CYBB gene, it is inherited in an X-linked manner. CGD impacts the body’s ability to create proteins that are essential for the production of a protein complex called NADPH oxidase, which plays an integral role in the immune system. As a result, people with CGD often have poorly functioning immune systems and experience an inability to fight infections.
Female carriers of CGD have been found to experience inflammatory bowel disease, photosensitivity rashes, round sores on their face and mouth, as well as other immune and autoimmune issues. A UK study determined that out of 94 female carriers, 79% demonstrated skin-related symptoms including photosensitivity, malar-like lupus rash, and eczema. 17% reported skin abcesses, 42% experienced gastrointestinal problems, and 26% of women met the criteria for systemic lupus erythemathos, an autoimmune disease in which the immune system attacks itself.
Today, we are bringing on Molly Keane, Senior Manager of Patient Advocacy at Horizon Therapeutics. Want more information about chronic granulomatous disease (CGD) and what it means to be a CGD X-linked carrier? A resource by Horizon Therapeutics can help you find access to testing or a nearby specialist. Head to KeytoCGD.com or @KeytoCGD on Instagram to learn more.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
