Frequent serious infections: Should we be aware of this rare condition (Chronic Granulomatous Disease - CGD)?

Does your little one get sick all the time? When one illness gets better, another one comes along. Does he sometimes develop serious infections in the skin, lungs, or even inside the body? Many parents are worried about such problems. Today we are going to talk about a rare but important genetic condition that can cause such frequent infections. We call this Chronic Granulomatous Disease, or CGD for short among doctors.

Simply put, what is CGD?

To understand this, let's first talk a little about our body's defense system. Imagine that our body is like a country. It has an army that is capable of protecting it from foreign enemies (germs). That is our immune system . A special part of this army is called white blood cells .

Now, here's what happens to someone with CGD. There's a special group of white blood cells called soldiers, for example, `(neutrophils)`, `(monocytes)`, `(macrophages)` and `(eosinophils)`. The main job of these cells is to find certain types of bacteria and fungi that enter the body, capture them, and destroy them.

But in someone with CGD, these special soldiers, or white blood cells, can't use their weapons properly. They can't make the special enzyme they need to kill those germs. It's like having a gun but no bullets. So what happens? Our immune system is overwhelmed, unable to fight off certain bacteria and fungi that enter the body.

These infections often occur in the skin, lungs, lymph nodes, and liver . They are also more likely to form abscesses , which are pus-filled lumps inside the body's organs.

This is not a very common disease. About one in two and a half million people worldwide develops this disease. Also, it has been found that boys are more likely to develop it .

What symptoms does someone with CGD show?

Symptoms of CGD usually begin in childhood. However, they can sometimes appear at any age. The main and most common symptom is recurrent severe bacterial and fungal infections.

Let's take a look at these symptoms to easily understand what they are.

Why does this CGD occur? What is the cause?

Simply put, CGD is a genetic condition.. That means this is something we inherit from our parents. Every function in our body is controlled by things called genes. Those white blood cells we talked about earlier contain the 'instructions' that make the enzymes needed to kill germs.

In CGD, there is a mutation in one of the five genes that contain these instructions. Because of this mutation, white blood cells cannot make the enzyme, or if they do make it, it does not work properly. The result is that they are unable to fight germs.

CGD is divided into two types depending on how this genetic defect occurs.

• X-linked CGD: This is the most common type. It is caused by a mutation in a gene (the `CYBB` gene) on the X chromosome. Men have one X chromosome, while women have two X chromosomes. This is why the disease is more common in boys .
• Autosomal recessive CGD: This is caused by mutations in other genes (`CYBA`, `NCF1`, `NCF2`, `CYBC1` or `NCF4`). This type can affect both males and females equally.

What are the risks and complications that can occur due to this disease?

A person with CGD is most at risk if someone in their family has the disease. However, very rarely, cases of the disease occurring spontaneously, without any family history, have been reported.

There are several complications that can occur due to CGD.

• Digestive problems: Ulcers and inflammation in the intestines can interfere with the digestive process.
• Bowel diseases: For example, there is an increased risk of developing conditions such as Inflammatory Bowel Disease (IBD), which is a chronic inflammation of the intestines.
• Growth problems: If young children and infants have this disease, their physical development may be delayed.
• Other diseases: Depending on the type of genetic defect that causes CGD, some people are also at risk of developing heart disease, kidney disease, diabetes, or other autoimmune conditions.

How do you know if you have CGD?

Your doctor will first ask you and your child about your symptoms and family medical history. Then, they will order several tests to confirm the diagnosis.

• Physical exam: The doctor carefully examines the body for swelling, abscesses, and granulomas.
• Blood tests: There is a special blood test that can accurately diagnose CGD. This is called the DHR test (dihydrorhodamine test) . This test measures the ability of white blood cells to kill germs.
• Genetic testing:A blood sample or tissue sample is taken to look for the specific genetic defect that causes CGD. This can also help determine the exact type of disease.

What are the treatments for CGD?

Although CGD cannot be completely cured, there are now many good treatments that can help control symptoms, protect against serious infections, and help people live a normal life.

Treatment with medication

• Antibiotics: Many CGD patients will need to take antibiotics for the rest of their lives to prevent bacterial infections and treat infections that do develop.
• Antifungals: Drugs like `(itraconazole)` are used to prevent and treat fungal infections.
• Interferon-gamma injections: This is a synthetic form of a protein made by our own immune system. This injection helps reduce the frequency and severity of infections.

Some patients, especially those with severe conditions, can undergo a stem cell transplant . This involves injecting stem cells from a healthy person into the patient's body, which replace the dysfunctional white blood cells with healthy cells. However, this is a somewhat complex and risky treatment, so doctors recommend it based on many factors, such as the patient's age and health.

What should we do to protect ourselves from infections?

• Be careful with water: Avoid swimming in rivers, oceans, and lakes altogether. These are not chlorinated, so germs that cause infections can easily enter your body. Therefore, if you do swim, use only a chlorinated pool .
• Take care of your garden: Avoid touching or hanging around garden waste, compost heaps, haystacks, and dry leaves. Some of the fungi that can be found in these can cause severe pneumonia that can be life-threatening if inhaled by a CGD patient. Therefore, you should be very careful about this.

Things to know about living with this disease

Hearing about this disease can be scary. But the truth is, with proper treatment and regular contact with your doctor, most people with CGD can live normal, active, and happy lives. The most important thing is to recognize an infection and start treatment early, before it gets worse.

If you or your child is suffering from frequent unexplained infections, see your doctor immediately and talk about this.

If your child has CGD, understand that it is not your fault. It is a genetic condition. With the right medical advice, your child has a good chance of living a long, happy life. The important thing is to be well-informed about the disease and follow your doctor's instructions carefully.