Chronic Granulomatous Disease (CGD)

Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency disorder caused by inability of phagocytes, specifically phagocytic granulocytes, to produce superoxide radicals necessary for microbial microbicidal activity. Patients with CGD are at an increased risk of opportunistic bacterial and fungal infections.

The exact cause of CGD is not known, but it is thought to be inherited. It is an inherited genetic condition caused by mutations in the gp91phox, p22phox, p40phox, p47phox, and p67phox genes, which are all involved in the production of superoxide. CGD is a chronic, recurrent illness and symptoms typically begin to develop after infancy.

Symptoms of CGD

Patients with CGD typically experience recurrent or chronic infections, often in the skin, lymph nodes, lungs, liver, and bones. Some late-onset symptoms of CGD include:

Persistent skin rashes
Chronic abscesses
Lung infections
Granulomas in the mouth, lungs, and intestines
Liver inflammation

Diagnosis of CGD

CGD is typically diagnosed via blood test, which can reveal the presence of certain genetic mutations associated with CGD. In some cases, a skin biopsy or bronchoalveolar lavage may be used to obtain a sample of cells from the affected area for analysis.

Treatment for CGD

CGD is a lifelong condition, and there is no cure. However, treatments are available to help keep the condition in check. Treatment options include antibiotics to manage existing infections, as well as preventive measures such as antifungal medications and vaccinations. Additionally, a bone marrow or stem cell transplant may be recommended for certain individuals.

How Can You Help?

Diseases like CGD are rare, and research and understanding of these conditions is still in the early stages. There are many ways that you can help, including donating to causes that support research and treatments for CGD, raising awareness of this condition, and supporting individuals and families affected by this disorder.