Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. People with this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. The features of this condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood. It is caused by changes (mutations) in any one of five different genes and is usually inherited in an autosomal recessive or X-linked recessive manner. Treatment consists of continuous therapy with antibiotic and antifungal medications to treat and prevent infections. The only cure for the disease is an allogeneic hematopoietic stem cell transplantation (HSCT).
In people with chronic granulomatous disease, the immune system does not work properly, which leaves the body vulnerable to certain types of bacteria and fungi. The features of the condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood. The signs and symptoms vary but may include:
- Frequent bacterial and fungal infections
- Granulomas (areas of inflamed tissue), most commonly in the gastrointestinal tractand/or the genitourinary system
- Abscesses that involve the lungs, liver, spleen, bones, or skin
- Swollen lymph nodes
- Persistent diarrhea
- Chronic runny nose