Learn More - Chronic Granulomatous Disease (CGD)
What is Chronic Granulomatous Disease (CGD)?
Chronic Granulomatous Disease (CGD) is an inherited condition characterized by a defect of specific white blood cells called neutrophils. These cells are unable to make hydrogen peroxide, a chemical needed to kill certain microbes. Patient with CGD are highly susceptible to infections from certain bacterial and fungal organisms. Patients with CGD have normal immunity to other microbes, including viruses.
Children with CGD are usually healthy at birth; however, they typically develop serious infections in early childhood that are difficult to treat. Patients may have severe or frequent infections including:
- Bacterial ear infections, pneumonia, or blood infections.
- Bone infections
- Skin or liver abscesses
- Fungal pneumonia,
- Occasionally, collections of cells known as granuloma develop in the respiratory, gastrointestinal or urinary tract, causing obstruction.
- Also, some patients will develop inflammation in their intestines called inflammatory bowel disease. This can be associated with chronic diarrhea and failure to gain weight.
Who gets CGD?
CGD can affect either boys or girls of any race or ethnicity. Defects in each of four distinct genes have been reported to result in CGD. The most common form (about 80% of cases) occurs in boys and is inherited as an X-linked disease, meaning that females may carry the abnormal gene for the disorder but don’t develop symptoms, whereas boys develop the clinical problems associated with the disease. The other three forms of CGD are inherited as an autosomal recessive disorder, meaning that the patient has one defective gene inherited from each parent. CGD is estimated to occur in approximately 1 out of every 250,000 live births.1 The average age at diagnosis is 3 years for boys and 7 years for girls.
How is CGD Diagnosed?
Frequent respiratory and skin infections suggest the possibility of CGD, especially if the infections are caused by certain bacteria or fungi, such as Serratia and Aspergillus. Definitive diagnosis of CGD is made by testing the production of hydrogen peroxide by neutrophils, and is confirmed by gene sequencing analysis to identify disease-causing mutations in any of the genes that are responsible for this condition.
What is the treatment for CGD?
Treatment for CGD may include the following:
- Medications - especially antibiotic medications to treat any active infections, and antibacterial or antibiotic medications to protect against future infections. In addition, your doctor may recommend weekly injections of an immunological hormone called Interferon-gamma, to enhance the function of the immune system.
- Avoiding infection-causing substances - Since severe infections in CGD can be caused by organisms present in the environment, patients with CGD are often encouraged to avoid areas with visible mold, including places containing woods and mulch.
- Neutrophil transfusions - if antimicrobials are not effective enough.
- Hematopoietic cell transplantation (HCT) – HCT provides patients with CGD with a functioning immune system capable of protecting them from infections. HCT replaces the defective cells with normally functioning cells from a healthy donor. HCT has been effective in many patients, especially if done before major organ damage occurs and in the absence of active infection.
- Gene therapy to correct the genetic mutation in CGD is still in experimental stages and is still considered an investigational treatment option.
