Chronic Granulomatous Disease (CGD) | Symptoms & Causes
What are the symptoms of CGD?
Most children with CGD are diagnosed by age 5. The most common symptoms of the disease include:
- Pneumonia
- Spleen and liver abscesses
- Osteomyelitis: a bone infection
- Suppurative arthritis: the invasion of a joint by a bacterial infection, which causes arthritis
- Superficial skin infections, such as cellulitis and impetigo
- Fungal infections
Chronic Granulomatous Disease (CGD) | Diagnosis & Treatments
How is chronic granulomatous disease diagnosed?
Chronic granulomatous disease (CGD) is diagnosed through:
- Neutrophil function tests to determine how well these white blood cells are functioning
- Dihydrorhodamine reduction test
- Genetic testing to confirm the presence of a specific gene mutation that results in CGD
After all tests are completed, doctors will be able to outline the best treatment options.
How we care for CGD
Children with CGD are treated by the Boston Children's Hospital Immunology Program. Our program provides comprehensive care for various types of immune system disorders, including CGD, and our patients have access to some of the most advanced diagnostics and treatments available.
X-CGD gene therapy
Boston Children’s is participating in a Phase I/II clinical trial to assess the safety, feasibility, and efficacy of gene therapy for X-linked CGD. (The trial is active but no longer recruiting patients.) The treatment is the product of a decades-long scientific journey, largely at Boston Children’s Hospital.
Good early results with CGD gene therapy
At 22, Brenden came to Boston Children’s Hospital and became the first person in the U.S. to receive a genetic therapy for chronic granulomatous disease. So far it's worked.
The treatment involves collecting blood stem cells from the patient and treating them, in a highly specialized laboratory, using a harmless virus to insert a correct version of the faulty gp91-phox gene into the cells. Patients then receive chemotherapy to make room for the genetically altered cells. Finally, the cells are given back via an intravenous (IV) infusion. After the transplant, the stem cells can produce new white blood cells that can fight off infection.
For more information, contact gene.therapy@childrens.harvard.edu.
