Is CGD serious?

Chronic granulomatous disease, or C-G-D, is a rare disease that about 20 children are born with every year in the United States. People with CGD have an immune system that doesn’t work properly, so they are at more of a risk of getting serious, life-threatening infections that lead to hospitalization.

What is deficient CGD?

Causes. Chronic granulomatous disease is a genetic disease. In CGD, mutations in any one of five different genes can cause a defect in an enzyme called phagocyte NADPH oxidase. Certain white blood cells use this enzyme to produce hydrogen peroxide, which these cells need in order to kill certain bacteria and fungi.

What type of infection is CGD?

Chronic granulomatous disease (CGD) is a genetic disorder in which white blood cells called phagocytes are unable to kill certain types of bacteria and fungi. People with CGD are highly susceptible to frequent and sometimes life-threatening bacterial and fungal infections.

What causes CGD disease?

Chronic granulomatous (gran-u-LOM-uh-tus) disease (CGD) is an inherited disorder that occurs when a type of white blood cell (phagocyte) that usually helps your body fight infections doesn’t work properly. As a result, the phagocytes can’t protect your body from bacterial and fungal infections.

Is CGD curable?

The only cure for CGD is a bone marrow or stem cell transplant.

How long do people with CGD live?

A: The average life expectancy for patients currently living with CGD is between 30 to 40 years, which is far less than the average for the normal population. Infection is the most common cause of early mortality, and earlier diagnosis and hence earlier intervention can lead to a longer life.

How is CGD diagnosed?

Your doctor may order several tests to diagnose CGD , including: Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD .

How common is CGD?

CGD is not common. Doctors diagnose it in about 1 out of every 200,000 to 250,000 people worldwide. CGD occurs more often in males than in females.

What is a CGD test?

Testing for CGD. The DHR (dihydrorhodamine) (flow cytometry test) and NBT (nitroblue tetrazolium) tests are used to diagnose CGD. Both work in a similar way. They check if someone’s blood cells are producing the enzyme NADPH oxidase, which plays a vital role in the way white blood cells fight infection.

Is CGD an autoimmune disease?

CGD is an immunodeficiency caused by defects in phagocyte oxidase with increased infections. A major characteristic is extensive granuloma formation associated with infection. However, unusual autoinflammatory processes have been reported in CGD patients that may be autoimmune disease.

When is CGD diagnosed?

Most children with CGD are diagnosed by age 5. The most common symptoms of the disease include: pneumonia. spleen and liver abscesses.

Can CGD be cured?

An infection in someone with CGD generally requires a long period of time to treat. Bone marrow transplant is another treatment option for some people with severe symptoms of CGD. Bone marrow transplantation can cure CGD.