Chronic granulomatous disease awareness

Overview

Chronic granulomatous disease (CGD) is a rare inherited condition that affects the immune system. In people with CGD, certain white blood cells cannot kill bacteria and fungi properly. This leads to frequent, often serious infections and areas of inflammation called granulomas, which are clumps of immune cells that form in different parts of the body.

No, CGD is rare. It affects about 1 in 200,000 babies born each year around the world.

CGD can affect anyone, but it is more common in boys and men because one form of the condition is linked to the X chromosome. Other forms affect both males and females equally. Symptoms often start in childhood, but some people are not diagnosed until later in life.

Symptoms

Common symptoms

• Repeated infections such as pneumonia, skin abscesses, or infected lymph nodes
• Long-lasting fevers without a clear cause
• Swollen, painful areas under the skin (abscesses)
• Lung infections that keep coming back
• Inflammation in organs, causing pain or digestive problems
• Slow healing of wounds

Symptoms in children

• Chest infections and pneumonia
• Skin abscesses and boils
• Deep infections of the liver, bones, or lymph nodes
• Poor weight gain and slow growth
• Frequent fevers

Symptoms in older adults

• Lung infections that are hard to clear
• Abscesses in organs such as the liver
• Joint pain and inflammation due to granulomas
• Unexplained fatigue and weight loss
• Skin infections that take long to heal

Causes

Main causes

• CGD is caused by changes (mutations) in genes that help white blood cells produce a substance needed to kill harmful bacteria and fungi.
• These gene changes are inherited from parents. A child can get CGD if both parents carry the gene, or in some cases from one parent if the mutation is on the X chromosome.
• Because the immune cells cannot destroy certain germs well, germs survive and cause repeated infections and inflammation.

Risk factors

• Having a family history of CGD or unexplained severe childhood infections
• Being male (for the X-linked form)
• Parents who carry the genetic change
• Consanguineous relationships (parents who are blood relatives) can increase the risk of autosomal recessive forms

When to see a doctor

See a doctor urgently if:

• If you or your child have a fever with severe pain, breathing problems, or an infection that spreads quickly
• If you have a known immune problem and develop any new, unusual symptoms
• If you suspect an infection that is not getting better with usual care

Book a routine appointment if:

• If you have repeated infections or a family history of CGD
• If your child has frequent severe infections or poor growth
• If you have been told you have an abnormal immune system test result

Diagnosis

Doctors usually start with a physical exam and discuss your medical and family history. To confirm CGD, they order special blood tests that check how well your white blood cells produce the chemicals needed to kill germs. Genetic testing looks for the specific gene changes.

Tests that may be done

• Blood tests to check white blood cell function (called the dihydrorhodamine or DHR test)
• Genetic testing for mutations in the CYBB, NCF1, NCF2, or NCF4 genes
• Specialised tests to see if your immune cells can kill bacteria or fungi
• A history of repeated unusual infections or granulomas on imaging scans

What to expect at your appointment

If your doctor suspects CGD, they will refer you to a specialist called an immunologist. The diagnosis process may take time, but it gives clear answers. Once diagnosed, a specialist team will help you create a care plan. You may also be offered genetic counselling for your family.

Treatment

There is no one-size-fits-all cure for CGD, but there are very effective treatments. Most people need long-term medicines to prevent infections and manage inflammation. Some people may be eligible for a stem cell (bone marrow) transplant, which can cure the condition. Your medical team will tailor your care to your needs. Always follow your doctor's advice.

Self-care at home

• Wash your hands regularly and encourage the whole family to do the same.
• Clean any cuts and grazes well and keep them covered until healed.
• Avoid contact with people who have active infections.
• Stay up to date with non-live vaccines recommended by your doctor.
• Tell your doctor right away if you notice any new symptoms — do not wait for a routine appointment.

Medical treatments

Medical care for CGD usually involves daily preventive antibiotics and antifungal medicines to stop infections from developing. Some people may also receive treatments to boost the immune system, known as immunotherapy. If infections occur, they are treated aggressively, sometimes in hospital. For severe cases, a stem cell transplant may be considered. Your specialist team will explain all the options and help you weigh the benefits and risks.

When is surgery considered?

Sometimes surgery is needed to drain a deep abscess or to remove granulomas that are causing problems, for example in the lungs or bowel. This is always done by a specialist team.

Living with this condition

Living with CGD means being aware of infections but not letting it rule your life. Keep up with your medication schedule, know the warning signs of infection, and have clear plan for when you feel ill. Many people with CGD go to school, work, and enjoy hobbies. It helps to have a supportive medical team.

Lifestyle tips

• Avoid smoking and second-hand smoke to protect your lungs.
• Take good care of your teeth and see a dentist regularly.
• Tell health professionals about your condition before any dental work or surgery.
• Consider wearing a medical alert bracelet so emergency staff know about your immune condition.

Diet and exercise

A healthy, balanced diet supports your overall health and gives your body energy to fight infections. Try to include a variety of fruits, vegetables, proteins, and whole grains. Gentle exercise such as walking, swimming, or cycling can help keep your heart and lungs strong. If you feel unwell, rest and get medical advice.

Mental health and emotional wellbeing

Living with a chronic condition can be stressful, for the person affected and their family. It is normal to feel worried, anxious, or low at times. Talk to your healthcare team about your feelings — they can help you find psychological support. If you are in crisis, reach out to a mental health service or a doctor immediately.

Prevention

CGD itself cannot be prevented because it is a genetic condition. However, many of the serious infections it causes can be prevented with good hygiene, preventive medicines, and prompt treatment. If you have a family history of CGD, genetic counselling can help you understand your risks for future children.

Vaccines

Live vaccines (vaccines that use weakened live germs) are usually not given to people with CGD. Your doctor will recommend safe, non-live vaccines such as the flu shot and pneumococcal vaccine. Always check with your immunologist before having any vaccine.

Screening programmes

If you have a child diagnosed with CGD, other family members may be offered genetic testing to see if they are also affected or are carriers. Newborn screening for CGD is not currently standard everywhere, so awareness of symptoms is important.

Complications

If left untreated

• Serious bacterial or fungal infections in the lungs, liver, bones, or brain
• Abscesses that keep coming back
• Chronic inflammation leading to organ damage, such as scarring in the lungs or bowel obstruction from granulomas
• Delayed growth in children without adequate treatment

Long-term outlook

The outlook has improved greatly. With early diagnosis and careful long-term care, many people with CGD live into older adulthood. Some treatment options, like stem cell transplantation, can offer a cure for certain people. Even without a transplant, many people manage the condition well and live full, active lives. A strong partnership with your healthcare team makes a real difference.

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