Chronic granulomatous disease (CGD) is a disorder that happens when your white blood cells can’t protect you from microbes like bacteria and fungi. If you’re not protected, you can get severe infections in your organs. CGD affects your immune system and is genetic, which means it’s passed down from relatives.
CGD isn’t common. For every 200,000 to 250,000 people in the world, only one person has the disease. It usually first shows up in childhood, but some people may not find out they have CGD until later. The condition is more common in males than females.
What Causes Chronic Granulomatous Disease?
You’re more likely to get the disease if another person in your family has it. But in some cases, it can happen because of a random genetic mutation.
Phagocytes are types of white blood cells in your immune system. Some examples include neutrophils and macrophages. If you have CGD, phagocytes are unable to target bacteria and fungi in your body. This means you could develop infections that could be life-threatening.
This all happens because of genetic mutations. There are two types of mutations. Doctors group your CGD based on which one you have:
X-linked CGD. This version is the most common form of CGD. It happens when there’s a mutation in your CYBB gene. This version usually happens in males.
Autosomal recessive CGD. This form can happen because of mutations in the CYBA, NCF1, NCF2, CYBC1, or NCF4 genes.
What Are the Symptoms of Chronic Granulomatous Disease?
With CGD, you might have a serious bacterial or fungal infection every few years. You could get infections in your:
- Lungs (such as pneumonia, especially after you’ve been around dead leaves, mulch, or hay)
- Stomach and intestines
- Lymph nodes
If you have an infection, you might have symptoms such as:
- Chest pain when you breathe
- Swollen and sore lymph nodes
- Irritated skin, with or without a rash, swelling, or redness
- A constant runny nose
- Redness or swelling in your mouth
- Stomach issues like vomiting, diarrhea, stomach pain, or bloody poop
CGD can put you more at risk for abscesses, which are pus-filled pockets, in your organs. You might develop swelling in different areas of your body.
Granulomas are usually benign, which means they’re not cancerous.
How Do Doctors Diagnose Chronic Granulomatous Disease?
Your care team will first look at your family and medical history. Then they’ll do a physical exam to check for CGD. They may also want to do a few tests to make a final diagnosis. These may include:
Neutrophil function tests. This test will show how well your neutrophils function in your blood.
Prenatal testing. If one of your children already has CGD, your doctor can do this test to help find out if others do.
Genetic testing. These tests can confirm if you have a specific genetic mutation that is common in CGD.
What Are the Treatments for Chronic Granulomatous Disease?
If you have CGD, your doctor will start you on a treatment that helps you avoid infections and manage your condition. There are a few options:
Interferon-gamma. These are injections that help boost cells in your immune system. This will allow your body to fight infections.
Stem cell transplantation. For some people, this can cure CGD. Your doctor will want to look at a few things before you begin this treatment. They’ll consider your prognosis, donor availability, and your own preferences.
Infection management. Your health care team will take steps to control your infection risk. They might give you continuous antibiotic therapy, like trimethoprim and sulfamethoxazole combination (Bactrim, Sulfatrim Pediatric). This will protect you from bacterial infections. They might also give you itraconazole (Sporanox, Tolsura) to help your body avoid fungal infections.
Your doctor might also provide you with antibiotics or antifungal medications if you do develop infections.
Right now, people usually live to about 30 to 40 years old with CGD. Experts continue to carry out clinical trials of new treatments.