Understanding Chronic
Granulomatous Disease (CGD)

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What is Chronic Granulomatous Disease (CGD)?

CGD is a disease of the immune system. It is also known as a primary immunodeficiency disease, or PI. Primary means it is not caused by some other disease or disorder.1 CGD is a type of PI that causes children and adults to have infections that come back frequently and are unusually hard to cure. CGD is a rare PI that is usually discovered in childhood. It weakens the immune system and increases the chances of getting a serious or unusual infection, or an infection that keeps coming back.1-3

What happens in the body?

In people who have CGD, a type of white blood cell called a phagocyte is defective. These defective phagocytes cannot generate superoxide. This means that in people with CGD, their bodies can’t kill harmful microorganisms like bacteria and fungi. This weakens the immune system. In trying to fight off an infection, the body may form extra tissue in the form of a lump, called a “granuloma.” These granulomas can cause serious harm. They can block off the intestines, for example.2

  • While CGD causes infections, it can also cause inflammation or swelling. This can lead to problems all over the body2

Who gets Chronic Granulomatous Disease (CGD)?

CGD is a genetic disease, which means that it is passed down through family. In most cases, children are born with the disease because they inherit a flaw in a gene from one or both parents. This can happen in one of two ways1:

  • X-linked CGD: This is the most common form of CGD. It comes from a defect in a gene on the X chromosome, one of the two chromosomes that make a person male or female
  • Autosomal recessive CGD: This form of CGD is caused by a defect in a gene on a different chromosome than the one that makes a person male or female

Signs and symptoms

A healthcare provider may suspect Chronic Granulomatous Disease (CGD) if they see infections that are unusual or in an unusual place for a healthy child. A person may begin to show signs of CGD at any time, but most of the time patients are diagnosed before 5 years of age.1
Healthcare providers may suspect CGD if a child’s infection fits this description3,4:

  • Unusual infection
  • Unusual place
  • Unusual age

If you think your child may have CGD, you should talk to your pediatrician.

The signs and symptoms of CGD may include1:

  • Slow growth in childhood
  • Infections from specific types of bacteria or fungi that affect the lungs, lymph nodes, liver, bones, or skin. These are often serious and come on suddenly, and keep coming back
  • A collection of tiny lumps, called “granulomas,” mostly in the bladder and intestines
    • May also cause wounds to heal abnormally, with lumps in the tissue
  • Colitis (inflammation of the colon)

Talk to your healthcare provider for more information about bacterial infections.

Testing for Chronic Granulomatous Disease (CGD)

The DHR Test

In most cases, healthcare providers will use a DHR test to find out if a person has CGD. This is a blood test, and it is very accurate. White blood cells (phagocytes) are exposed to the chemical dihydrorhodamine (DHR). The cells are measured using a process called flow cytometry. Normal white blood cells will give off a fluorescent light, which means the cells produce the chemical needed to kill harmful microorganisms. If the cells do not give off a fluorescent light, it means that the cells do not have any, or enough, of the chemical needed to kill the microorganisms. This would mean that the patient may have CGD.1

Visit ACTIMMUNE.com to learn more about the treatment of GCD.