Chronic Granulomatous Disease: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Chronic Granulomatous Disease?
An immunologist, a doctor who treats immune system disorders, usually treats chronic granulomatous disease. An infectious disease doctor, who treats infections that are hard to clear, often helps too. A geneticist, a doctor who studies inherited conditions, can explain how it runs in families. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is chronic granulomatous disease?
Chronic granulomatous disease, or CGD, is an inherited disorder. Inherited means it is passed down through families. In CGD, certain immune system cells do not work properly. CGD is marked by repeated and severe infections.
The cells that fail are called phagocytes. Phagocytes are cells that catch and destroy germs such as bacteria and fungi. In CGD, phagocytes cannot kill some types of bacteria and fungi. This leads to long-term and repeated infections.
People with CGD may also have granulomas, which are areas of inflammation that can damage tissue. CGD is rare, estimated to affect 1 in 200,000 to 250,000 people worldwide.
Symptoms
Symptoms usually first appear in childhood. Some people do not have symptoms until later in life.
CGD can cause many types of skin infections that are hard to treat. They include:
- Blisters or sores on the face, called impetigo.
- Abscesses, which are growths filled with pus.
- Boils, which are pus-filled lumps in the skin.
The lungs are the most frequent area of infection. Pneumonia is a common feature. Some people get a type of fungal pneumonia called mulch pneumonitis. It happens after contact with decaying organic material such as mulch, hay, or dead leaves, and causes fever and shortness of breath.
CGD can also cause persistent diarrhea. Inflammation in the gut can cause stomach pain, diarrhea, bloody stool, nausea, and vomiting.
Causes and who gets it
CGD is caused by changes in genes. A change in any one of five genes can cause it. These genes help make an enzyme called NADPH oxidase, which is active in phagocytes. The enzyme helps make toxic substances that kill germs.
One form of CGD is X-linked recessive, which means the gene is on the X chromosome. Boys are more likely to get the disorder than girls. Other forms are autosomal recessive. In these forms, a child gets a changed gene from each parent. Men and women are affected equally by these forms.
How doctors diagnose it
A doctor will do an exam and may find liver swelling, spleen swelling, or swollen lymph nodes.
Tests that may be done include a bone scan, a chest x-ray, and a complete blood count. Genetic testing can also confirm it.
One blood test is the nitroblue tetrazolium (NBT) slide test. In this test, NBT is mixed with white blood cells, which then turn it a deep blue color if they make germ-killing chemicals normally. If tests show CGD, genetic testing is usually recommended to find the specific type.
Treatment
Antibiotics are used to treat infections caused by CGD. Taking antibiotics long term may prevent infections. Doctors also use an antifungal medicine to help protect against fungal infections.
A medicine called interferon-gamma may help reduce the number of severe infections. The FDA (the U.S. Food and Drug Administration) has approved interferon gamma-1b for CGD. Corticosteroid medicines are also of benefit for treating complications caused by granulomas. Surgery may be needed to treat some abscesses.
MedlinePlus says the only cure for CGD is a bone marrow or stem cell transplant. Bone marrow transplants have been successful in many people with CGD, especially with matched donors at a younger age. Gene therapy is being studied in early clinical trials as a possible treatment.
When to see a doctor
If you or your child has CGD and you suspect pneumonia or another infection, contact your provider right away. Also tell your provider if a lung, skin, or other infection does not respond to treatment.
Call 911 or go to the emergency room if there are breathing problems, such as trouble breathing or shortness of breath, fainting or loss of consciousness, or a sudden change in mental state, such as confusion.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either kind of doctor is a provider you can contact right away if you suspect pneumonia or another infection.
Common questions
Can chronic granulomatous disease be cured?
Yes, but only with a bone marrow or stem cell transplant. Other treatments, such as long-term antibiotics, help prevent infections.
Is chronic granulomatous disease inherited?
Yes, it is passed down through families. Boys are more likely to get it than girls. Some forms affect boys and girls equally. Genetic counseling is recommended if you plan to have children and have a family history of this disease.
Can people with chronic granulomatous disease live a long life?
Many can, and with treatment most people live into mid- to late adulthood. Repeated infection and inflammation can reduce life expectancy.
Sources
- MedlinePlus - Chronic granulomatous disease
- MedlinePlus Genetics - Chronic granulomatous disease
- National Organization for Rare Disorders - Chronic Granulomatous Disease
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
