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Chronic Granulomatous Disease: Symptoms, Causes, Improved Survival, & Prevention of Infections

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Written by Emily Martin, MD.
Resident in Emergency Medicine at the University of Washington
Last updated May 15, 2024

Chronic granulomatous disease quiz

Take a quiz to find out if you have chronic granulomatous disease.

This article will review the symptoms, causes, management, and prognosis of chronic granulomatous disease. The most common symptoms are recurrent respiratory and skin infections that are often severe, although infection anywhere in the body is possible.

What is chronic granulomatous disease?


Chronic granulomatous disease (CGD) is a rare, inherited disease that typically presents in childhood with recurrent, serious, and possibly fatal bacterial and fungal infections. The disease is a disorder of a specific enzyme in the immune system, resulting in the inability of immune cells to destroy bacteria and fungus that cause infection. It is caused by several different genetic mutations and inherited in families.

The most common symptoms are recurrent respiratory and skin infections, although infection anywhere in the body is possible. CGD is diagnosed by a blood test and requires genetic testing to confirm the diagnosis.

Treatment is focused on the prevention of serious bacterial and fungal infections using prophylactic medication and frequent screening. The prognosis for CGD is vastly improved over the past 20 years, but average life expectancy is still only 40 years. Hematopoietic cell transplant (also known as HCT or bone marrow transplant) is a cure for CGD but it is not without risk, and this decision depends on the severity, availability of donors, and patient and family preferences.

Recommended care

You should visit your primary care physician. If he/she has ruled out other reasons for you getting sick, your doctor will refer you to a specialist, who will do special tests of your immune cells. Treatment is vigilance in looking out for infections.

Chronic granulomatous disease symptoms

The symptoms of chronic granulomatous disease are extensive as infection or inflammation can occur in many different systems in the body. The following is a list of the most common symptoms but is not comprehensive.

Main symptoms

The main symptoms experienced in chronic granulomatous disease include the following.

  • Growth retardation
  • Failure to thrive
  • Fever
  • Chills
  • Malaise
  • Pain
  • Frequent recurrent bacterial or fungal infection

Common infections

The following infections commonly occur and reoccur with chronic granulomatous disease.

  • Staph aureus (bacteria)
  • Aspergillus (fungus)
  • Serratia (bacteria)
  • Klebsiella (bacteria)
  • Burkholderia (bacteria)
  • Nocardia (bacteria)

Respiratory symptoms

Respiratory symptoms commonly experienced with chronic granulomatous disease include the following.

  • Cough
  • Difficulty breathing
  • Chest pain

Abdominal symptoms

The following abdominal symptoms may occur with chronic granulomatous disease.

  • Enlarged liver
  • Enlarged spleen
  • Abdominal pain
  • Diarrhea

Abdominal distension

Skin symptoms

The following skin symptoms may be experienced with chronic granulomatous disease.

  • Enlarged, swollen, or painful lymph nodes
  • Cellulitis (bacterial infection of the skin)
  • Abscess
  • Severe acne
  • Painful inflammation of the nostrils

Chronic granulomatous disease causes

Immune system deficiency

The immune system is comprised of multiple types of cells that fight many different types of infections. A specific cell, the phagocyte, is responsible for killing bacteria and fungus that invade the body. These phagocytes engulf or “eat” the offending bacteria or fungus. Once engulfed, they release an enzyme called nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (NOX) that helps to kill the bacteria or fungus, thus fighting the infection. In CGD, there is a mutation in the gene that makes the enzyme NOX. This results in the inability of the phagocytic cells to kill the bacteria or fungus. As a result, the immune system is unable to effectively fight infections caused by bacteria or fungus, resulting in repeated, severe bacterial and fungal infections. People with CGD are particularly susceptible to a specific set of bacterial and fungal infections including Aspergillus Staph, Burkholderia, Serratia, Nocardia, and Klebsiella. It is unclear exactly why patients with CGD are more affected by these specific infections.


The NOX enzyme is made up of five different proteins, and if there mutations in any of these five proteins, this can result in a defective NOX protein leading to CGD. Most of these mutations are autosomal recessive mutations, meaning they are passed in families but only cause disease in a child if both parents have the genetic mutation. One mutation is an x-linked mutation, which means it is carried on the X chromosome and can only be passed from a mother to her son. Different genetic mutations result in different levels of dysfunction by the NOX enzyme. Some genetic mutations result in more severe forms of CGD and others result in less severe forms.


The following diagnostic methods are considered for chronic granulomatous disease.

  • Neonatal screening: It is possible to use genetic screening during pregnancy to test for CGD if there is a family history of CGD. This requires obtaining a fetal blood sample or amniotic fluid sample. If you have CGD or a family history of CGD and are considering pregnancy, consult with a genetic specialist.
  • Blood test: In order to diagnose CGD, the function of the NOX enzymes needs to be tested, which is also referred to as neutrophil function testing. This is tested using a blood sample. The most common test of the enzymes is known as the dihydrorhodamine 123 test. An older but also commonly used test is known as the nitroblue tetrazolium (NBT) test.
  • Genetic testing: If you have a positive blood test, you should have a genetic test to confirm the diagnosis. Genetic testing takes a blood sample and looks at your genetic make-up to find the specific mutation causing the disease. The genetic mutation is also important in predicting the severity of the disease (see prognosis below).


When CGD was initially discovered, patients rarely survived into adulthood. Now, however, the survival of the disease has dramatically improved and the average survival for patients with CGD is 40 years. This is largely due to earlier diagnosis and the use of prophylactic antibiotics to prevent infection (see treatment below). The leading cause of death in people with CGD is respiratory fungal infections. The survival is linked to the level of dysfunction in the NOX enzyme, which correlates with how well the immune system is able to function.

  • X-linked CGD: Some of the x-linked genetic mutations are associated with worse immune function and are at higher risk for severe and life-threatening infections.
  • Autosomal Recessive CGD: These mutations are usually associated with some preserved immune function, less severe disease, and better life expectancy.

Treatment options and prevention

Preventing infections

The management of CGD is focused on preventing bacterial and fungal infections with prophylactic medications and the following measures.

  • Bacterial prophylaxis: People with CGD should be on lifelong prophylactic antibiotics to prevent bacterial infection. Typically, trimethoprim-sulfamethoxazole (TMP-SMX, Bactrim) is used. This greatly reduces the chance of severe bacterial infection.
  • Fungal prophylaxis: People with CGD should be on lifelong prophylactic antifungal to prevent fungal infection. Typically, itraconazole is used. This greatly reduces the chance of severe fungal infection.
  • Vaccination: Live bacterial vaccines are not recommended for patients with CGD as they may cause severe reactions. Otherwise, patients with CGD should receive all viral vaccines and inactivated or subunit bacterial vaccines on a normal childhood schedule.
  • Screening for infection: People with CGD may have serious infections but be asymptomatic or minimally symptomatic at first. Therefore, it is recommended that they have blood tests intermittently to look for inflammatory markers that may indicate an infection is present. These specific blood tests are the ESR and CRP. If either is elevated it should prompt further imaging (either CT or MRI) to find the infection in order to appropriately treat it.

Other treatments

Other treatments that will likely be necessary throughout the course of chronic granulomatous disease, and include the following. Stem cell transplant is a definitive cure for CGD, however, it has risks and this decision depends on prognosis, donor availability, and your preference.

  • Treatment of infection: If an infection is found, it needs to be treated promptly and aggressively. This may involve antibiotics or antifungal medication. For severe infections, patients may need to be admitted to the hospital to receive intravenous antibiotics or antifungals. In some cases, surgery is warranted if an infection is in the abdomen and needs to be drained or washed out for definitive treatment.
  • Anti-inflammatory therapy: Inflammation in the gastrointestinal system or urinary tract can cause pain, diarrhea, difficulty urinating, among other symptoms. These symptoms are typically treated with oral steroids. Some other anti-inflammatory drugs including azathioprine or sulfasalazine are used as well.
  • Hematopoietic cell transplant (HCT, bone marrow transplant): In HCT, you receive blood-forming cells (cells from which all immune cells develop) from a healthy donor with similar but not identical genetics. Donors are often siblings or parents. Outcomes of HCT are generally better in young patients, but can also be effective for older patients with severe recurrent infections. However, HCT is risky and can result in worsening of disease or death. The risk and benefits of HCT should be discussed extensively with a specialist.

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When to seek further consultation

Anyone with a family history of CGD warrants evaluation by a specialist. If you have a family history of CGD and are considering becoming pregnant, consult a genetic specialist. Anyone with a diagnosis of CGD should be treated and followed by a specialist. Typically, a Hematology-Oncology expert cares for patients with CGD.

Questions your doctor may ask to diagnose chronic granulomatous disease

  • Has any part of your body become paler than normal?
  • Have you been feeling more tired than usual, lethargic or fatigued despite sleeping a normal amount?
  • Are you experiencing unusually quick or severe fatigue when doing physical activity or exercising?
  • Do you have dry skin?
  • Are you short for your age?

Self-diagnose with our free Buoy Assistant if you answer yes on any of these questions.

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The stories shared below are not written by Buoy employees. Buoy does not endorse any of the information in these stories. Whenever you have questions or concerns about a medical condition, you should always contact your doctor or a healthcare provider.
Dr. Rothschild has been a faculty member at Brigham and Women’s Hospital where he is an Associate Professor of Medicine at Harvard Medical School. He currently practices as a hospitalist at Newton Wellesley Hospital. In 1978, Dr. Rothschild received his MD at the Medical College of Wisconsin and trained in internal medicine followed by a fellowship in critical care medicine. He also received an MP...
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