Chronic Granulomatous Disease (CGD) is a rare genetic disorder characterized by a malfunctioning immune system. It is primarily an inherited condition, typically passed from parents to their children through a mutation in genes responsible for the production of proteins involved in the immune response.
CGD affects the white blood cells, particularly the phagocytes, which play a critical role in fighting infections. In individuals with CGD, the phagocytes are unable to produce an enzyme called NADPH oxidase, which is necessary to destroy foreign substances such as bacteria and fungi. As a result, these foreign substances are not effectively eliminated, leading to recurrent and severe infections that may persist for extended periods.
This disease is typically diagnosed early in life, as affected individuals often present with frequent infections, including pneumonia, skin abscesses, and deep tissue infections. In addition to the frequent and severe infections, granulomas may also develop. Granulomas are inflamed masses of immune cells that can form in various organs such as the lungs, liver, and gastrointestinal tract.
The treatment of CGD generally consists of managing the symptoms and preventing infections. Antibiotic therapy is often used to control and prevent infections, while antifungal medication may be prescribed for fungal infections. Additionally, some individuals may undergo bone marrow or stem cell transplantation, which can replace the defective immune system with a healthy one.
With early diagnosis and appropriate treatment, individuals with CGD can lead relatively normal lives. However, the severity and prognosis of the disease can vary depending on the specific genetic mutation and the associated complications.
