Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a genetic condition. It happens when a particular type of white blood cell, called a phagocyte, doesn't function correctly. Normally, phagocytes are part of your body's defense system, helping to fight off infections. When phagocytes don't work properly, they can't effectively protect your body from bacteria and fungi.

This means people with CGD are more vulnerable to infections. These infections can affect various parts of the body, including the lungs, skin, lymph nodes, liver, stomach, intestines, and other organs. A common response to these infections is the formation of small collections of white blood cells, called granulomas, at the sites of infection.

Most people with CGD are diagnosed as children. However, some people aren't diagnosed until they're older, even into adulthood.

People with chronic granulomatous disease (CGD) frequently get serious bacterial or fungal infections. These infections can happen every few years. One common place for these infections to occur is in the lungs, leading to pneumonia. A particularly serious type of fungal pneumonia can develop in people with CGD if they've been around dead leaves, mulch, or hay. CGD can also cause infections in other parts of the body, including the skin, liver, stomach, intestines, brain, and eyes.

Common signs of infection in CGD include:

• Fever: A general feeling of warmth and illness.
• Chest pain with breathing: Pain in the chest when you breathe in or out.
• Swollen, sore lymph nodes: Swollen and tender glands, often found in the neck or armpits.
• Persistent runny nose: A nose that continues to drip or run.
• Skin problems: Skin irritation like rashes, swelling, or redness.
• Mouth sores: Swelling and redness in the mouth.
• Gastrointestinal issues: Problems with the digestive system, which can include:
  • Vomiting
  • Diarrhea
  • Stomach pain
  • Bloody stools
  • Abscess near the anus: A painful collection of pus near the bottom.

If you or your child has been exposed to dead leaves, mulch, or hay and are showing signs of fungal pneumonia (like those listed above), seek immediate medical attention. Similarly, if you or your child experience frequent infections with any of the symptoms described, it's crucial to talk to your doctor. Early diagnosis and treatment are important for managing CGD and preventing serious complications.

If you or your child think you might have a lung infection caused by mold or fungus found in things like dead leaves, mulch, or hay, seek medical attention immediately. This is important because these infections can be serious. If you or your child are having repeated infections with symptoms like those described above, it's a good idea to talk to your doctor. They can help figure out what's going on and recommend the best course of treatment.

Chronic Granulomatous Disease (CGD) is a condition where a person's immune system doesn't work as it should, making them more vulnerable to infections. This problem stems from changes in one of five specific genes. These genes are instructions for making proteins that work together to form a special enzyme. Think of this enzyme as a crucial worker in your body's immune system.

This enzyme plays a key role in white blood cells called phagocytes. Phagocytes are like tiny cleanup crews, actively hunting down and destroying harmful invaders like fungi and bacteria to protect you. The enzyme also helps other immune cells that are involved in the healing process.

When these genes have mistakes, or mutations, the proteins that make up the enzyme aren't produced correctly or they don't work as they should. This means the phagocytes can't do their job effectively, leaving the person more susceptible to infections.

In some cases of CGD, doctors can't identify the specific genetic change that caused the problem. This means the exact reason why the enzyme isn't working properly in these individuals is still unknown.

Chronic granulomatous disease (CGD) is a genetic condition that makes it harder for the body to fight off infections. While both boys and girls can inherit CGD, boys are more frequently diagnosed with the condition. This difference in rates isn't because CGD affects boys more directly; it's due to the way the gene responsible for CGD is passed down. The gene is carried on the X chromosome. Boys only have one X chromosome, so if they inherit a faulty copy of the gene on that X chromosome, they're more likely to develop CGD. Girls, having two X chromosomes, can inherit one faulty copy and still have a working copy of the gene on the other X chromosome, which often protects them from developing the illness. It's important to remember that while boys are more commonly affected, girls can and do get CGD. Doctors and genetic counselors can provide more specific information about the risks and inheritance patterns related to CGD.

Doctors use several methods to diagnose Chronic Granulomatous Disease (CGD). First, they'll ask about your family health history and do a physical exam. This helps them understand if CGD might be a possibility.

Next, they might order some tests to confirm the diagnosis. These tests look at how well your white blood cells (specifically, neutrophils) work. A common test is called a dihydrorhodamine 123 (DHR) test. This test measures how effectively neutrophils fight germs. Other similar tests can also be used. The DHR test is often a key part of diagnosing CGD.

Doctors may also do a genetic test. This test looks for specific gene changes that are linked to CGD. Finding these changes confirms the diagnosis.

Finally, if a child in your family already has CGD, doctors might consider prenatal testing during a pregnancy. This can help identify if the unborn baby might also have the condition. This is important so that treatment can be planned if necessary.