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What is chronic granulomatous disease?

Chronic granulomatous disease (CGD) is an inherited immune system disorder that occurs when a type of white blood cell (phagocyte), which usually helps the body fight infection, does not work properly. In CGD, the phagocytes can’t kill germs that are ingested and therefore cannot protect the body from bacterial and fungal infections. Children with CGD are often healthy at birth but develop severe infections in infancy and during early childhood. Rarely, in milder forms, the diagnosis doesn’t become clear for years or decades.

Because they are unable to fight off infections, children with CGD often get very sick from bacteria that could be mild or cause no disease at all in a healthy child. These infections may affect the lungs, skin, liver, lymph nodes and intestines. Children may also develop masses of inflammatory tissue called granulomas in response to chronic infections. These granulomas usually develop in the skin, gastrointestinal tract and genitourinary tract. CGD was named for these masses of inflammation before the genetic causes were discovered.

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:

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.

Brenden meets with his doctor.

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.

Chronic Granulomatous Disease (CGD) | Programs & Services