What is Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) is a rare genetic disorder that affects the immune system's ability to fight off certain types of bacteria and fungi. It is characterized by a malfunction in the body's white blood cells, specifically the phagocytes, which are responsible for destroying harmful microorganisms.

Individuals with CGD have defective or absent enzymes that are crucial for the production of reactive oxygen species (ROS) within the phagocytes. ROS play a vital role in killing bacteria and fungi. As a result, people with CGD are highly susceptible to recurrent and severe infections, particularly in the lungs, skin, lymph nodes, and other organs.

Common symptoms of CGD include frequent bouts of pneumonia, skin abscesses, swollen lymph nodes, and chronic inflammation. These symptoms can vary in severity among affected individuals.

CGD is typically diagnosed through genetic testing and specialized laboratory tests that measure the phagocytes' ability to produce ROS. Treatment options for CGD focus on preventing and managing infections. This may involve long-term antibiotic therapy, antifungal medications, and immunomodulatory drugs.

While there is currently no cure for CGD, ongoing research aims to develop gene therapy and other innovative treatments to improve the quality of life for individuals living with this condition.