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Chronic granulomatous disease (CGD) and other phagocytic cell disorders

Chronic granulomatous disease (CGD) is an inherited disease in which the body’s cells that eat invaders (also called phagocytes) do not make hydrogen peroxide and other chemicals. These chemicals are needed to kill certain bacteria and fungi.


Chronic granulomatous disease (CGD) is a type of primary immunodeficiency (PI) in which one group of the body’s white blood cells, called neutrophils, fail to make the hydrogen peroxide, bleach, and other chemicals needed to fight bacterial and fungal infections. As a result, patients with CGD have trouble preventing the start of infection. In an attempt to control infection, masses of neutrophils and other immune cells continue to gather at the site of infection, forming large groups of these cells called granulomas, hence the name of the disease. While small granulomas are microscopic in size, sometimes the granulomas get so large that they form “knots” of sufficient size to be felt and seen and can obstruct the bowel or the emptying system of the urinary tract. CGD is not contagious—it is caused by hereditary or genetic defects.

There are six different genetic kinds of CGD. The most common form in North America is called X-linked because the affected gene for part of the NADPH complex is on the X chromosome (70% of cases in the U.S.) and affects almost only males. The other types of CGD are due to autosomal recessive mutations where two abnormal copies of the gene for other parts of the NADPH complex lead to symptoms of CGD; therefore, males and females are equally affected. In addition, girls carrying the X-linked gene may have autoimmune problems, like lupus of the skin, and sometimes may have serious infections. It is important to follow the neutrophil function in females carrying the abnormal X-linked gene since this can change over time and lead to an increased risk of CGD symptoms, including infections and IBD.

The good news is that patients with CGD can defend against most infections. Patients with CGD have normal immunity to most viruses and partial to full immunity to many types of bacteria and fungi naturally found on their skin, in their bowel, or in the environment, which is why they are not infected all the time. They may go months to years without infections and then have a severe one. Patients with CGD make normal antibodies, so are not particularly susceptible to viruses and generally do not need antibody replacement treatments. Individuals with chronic granulomatous disease (CGD) are usually healthy at birth. The features of CGD generally first appear in childhood, although some individuals do not show symptoms until later in life. It is important to pay attention to symptoms and seek medical attention at the first sign of infection.


It is also important to note that not all patients with CGD experience all symptoms. Each patient is different. Many internal and external factors can affect the rate and severity of infections, such as the type of CGD that a patient has or whether the patient has had significant exposure to the types of bacteria and fungi that their immune systems can’t fight. 

Common signs and symptoms of CGD include:

The most common CGD infection in infancy is a skin or bone infection with the bacteria Serratia marcescens. Other characteristic CGD organisms include Staphylococcus aureus, Burkholderia cepacia complex, Nocardia, and Aspergillus. Any patient of any age with a CGD-type infection (listed) should be tested for CGD. Infections in CGD may involve any organ or tissue, but the skin, lungs, lymph nodes, liver, and bones are the usual sites of infection.

Individuals with CGD are susceptible to pneumonia due to the fungus Aspergillus and some other fungi found in soil and decaying organic matter. Symptoms may come on very slowly, initially only causing fatigue and only later causing cough or chest pain. Fungal types of pneumonia often do not cause fever. In contrast, bacterial infections usually come on very quickly with fever and cough.

Liver abscesses occur in about one-third of individuals with CGD. A liver abscess can start out as fever and fatigue, but it may also cause pain over the right upper abdomen.

Bone infections (osteomyelitis) can involve the hands and feet and can also involve the spine, particularly if there is a fungal infection in the lungs that spreads to the spine.

Inflammation is also a significant problem in people with CGD, both with and without infection. Granulomas can cause trouble with intestinal or urinary function and can also form in the lung, the eye, or the skin. 

One of the most difficult aspects of living with CGD is bowel inflammation. About 40-50% of individuals with CGD develop inflammation in the intestine that is not clearly due to a specific infection. Individuals with CGD can have severe abdominal pain, diarrhea, weight loss, and sometimes abnormal narrowing in parts of the intestines. Inflammation in the gastrointestinal (GI) tract can present as colitis (inflammation and ulcers of the bowel wall of the colon). Commonly called inflammatory bowel disease (IBD), this inflammation is similar in clinical appearance to Crohn’s disease. Mouth sores, frequent vomiting, problems with urination, and sometimes damage to the kidneys can be seen due to the inflammation associated with CGD.

Find CGD clinical trials

See if you qualify to participate in clinical trials evaluating new treatments and/or diagnostics for CGD.

Diagnosing CGD

If you suspect CGD, it is important that you talk to your doctor. Because CGD is an inherited disorder, it is important to tell your doctor if CGD is diagnosed in any other family member. Your doctor should consult or refer you to a specialist if they are unfamiliar with primary immunodeficiencies such as CGD. Specialists such as immunologists or infectious disease specialists are often better equipped to make a CGD diagnosis. To assist in your search, IDF maintains a database to help patients and families locate a specialist, and that information is available 24/7 via the Clinician Finder.

The most accurate test for chronic granulomatous disease (CGD) measures hydrogen peroxide in phagocytes using a chemical called dihydrorhodamine. The test is called dihydrorhodamine reduction or DHR. There are other types of tests still used to diagnose CGD, such as the Nitroblue Tetrazolium (NBT) slide test. The NBT test is more prone to incorrect reading and may miss some mild cases of CGD.

Once the diagnosis of CGD is made, it is useful to confirm the genetic sub-type of CGD for genetic counseling because some types of CGD need bone marrow.


After processing your diagnosis, one of the first things to do is get informed about your treatment options. The foundations of CGD management are early diagnosis; a combination of antibiotics and antifungal prophylaxis and interferon-gamma to reduce infections; management of exposures; and consideration for hematopoietic stem cell transplantation.
With proper medical care and treatment, many people with CGD are able to live healthy and independent lives.

All individuals with CGD should be on antibiotics for the prevention (prophylaxis) of bacterial infection. The first line of therapy is usually trimethoprim/sulfamethoxazole, also known as cotrimoxazole and septra. Since the infections that are important in CGD are in the environment and not carried in our bodies normally, the effect of antibiotics is to theoretically build a wall around the patient. Some antibiotics can also be given by injection if cultures indicate a need for such. Cotrimoxazole is active against most bacteria that may infect patients with CGD, but this medication does not suppress the helpful bacteria that normally live in the bowel. That is what makes cotrimoxazole a good choice for long-term CGD prophylaxis. Patients need to be aware of the side effects of antibiotics and discuss them with their physician.

To reduce the frequency of fungal infections, many patients with CGD take itraconazole or other antifungal medications. Daily doses of the oral antifungal drug itraconazole can reduce fungal infections in CGD.

Maximum infection prophylaxis for CGD involves treatment with twice-daily oral doses of cotrimoxazole and twice-daily itraconazole, voriconazole, or posaconazole, plus three times weekly injections of interferon-gamma. With these prophylactic treatments, the average incidence of severe infections in CGD is less than once every four years. Individual factors will influence this frequency as well.

Patients need to be aware of antifungal side effects and discuss them with their healthcare professional. Some side effects could include photosensitivity from Voriconazole and sometimes elevated liver enzymes from any of the imidazoles. Liver function tests should be monitored.

To reduce the frequency and severity of serious infections associated with CGD, many patients receive interferon-gamma, a biologically manufactured protein that is similar to a protein your body makes naturally. The exact way this drug works has yet to be fully understood, but it is thought to work by affecting the function of many different types of cells, including cells in the immune system and those that help form your bones.

Although not a cure for CGD, interferon-gamma can reduce the frequency and severity of serious infections associated with CGD. Typically, it is taken by under-the-skin injections three times a week. The most common side effects are “flu-like” that may decrease in severity as treatment continues. If side effects develop, they may be minimized by bedtime administration, and acetaminophen taken before the injection may help.

In a large international multicenter randomized placebo-controlled trial, interferon-gamma was effective at reducing the number of serious infections (those requiring hospitalizations) by 70% regardless of inheritance pattern, sex, or use of chronic antibiotics.

All individuals with CGD should be on antibiotics for the prevention (prophylaxis) of bacterial infection. The first line of therapy is usually trimethoprim/sulfamethoxazole, also known as cotrimoxazole and septra. In addition, itraconazole, voriconazole, or posaconazole should be used for the prevention of fungal infections. The use of these medications reduces infections dramatically. Interferon-gamma is an injectable pro-inflammatory molecule that can be used together with antibacterial and antifungal prophylaxis to reduce infection. Since the infections that are important in CGD are found in the environment and not carried in our bodies normally, the effect of prophylaxis is to build a wall around the individual: it can still be jumped over but prophylaxis makes it harder for infections to get in. Maximum infection prophylaxis for CGD involves treatment with twice-daily oral doses of cotrimoxazole and once-daily itraconazole, plus three times weekly injections of interferon-gamma. With these prophylactic treatments, the average incidence of severe infections in CGD is less than once every four years.

Early diagnosis of infection and prompt, aggressive use of appropriate antibiotics and antifungal agents are the best ways to treat acute CGD infections. Initial therapy with antibiotics aimed at the usual suspects makes sense while waiting for results of infection test results, but it is important to try to identify the specific infection and not just guess all the way along. Intravenous antibiotics may be needed for serious CGD infections. Phagocyte transfusions are sometimes used when an infection is especially life-threatening or slow to resolve such as can be the case with deep tissue fungal infections.

Steroid medications, such as prednisone or methylprednisolone, may sometimes be required to control inflammation. Individuals on steroids need close monitoring for side effects such as high blood pressure and high sugar levels.

Side effects of both antibiotics and antifungals may include nausea, vomiting diarrhea, loss of appetite, or rash. Interferon-gamma injections may cause fever, fatigue, and depression. Acetaminophen taken before the injection may help. Flu-like side effects are usually related to the dose and may be decreased by lowering the dose or how often it is given. Even doses lower than the standard recommendation may provide some protection against infection. Individuals with CGD should consult their healthcare provider if they experience side effects. The risks and benefits of any treatment should be carefully considered.

Managing Exposures

Fungal and bacterial exposures are prevalent in everyday life, but there are some precautions that can be taken to avoid exposures and reduce infection risk.

Many physicians suggest that swimming should be confined to well-chlorinated pools. Brackish water in particular, like bays and rivers near the ocean, may contain organisms that are specifically dangerous in CGD, such as Francisella philomiragia and Chromobacterium violaceum.

Individuals with CGD should avoid handling dirt, as well as grass cuttings, decaying leaves, garden mulch (shredded moldy tree bark), and potting soil because they contain high levels of fungi and bacteria. These exposures can cause severe pneumonia. Individuals with CGD should remain indoors during mulching in neighboring yards. Once the mulch is settled firmly on the ground and is not being spread or raked, it is much less of a danger to individuals with CGD. Individuals with CGD should also avoid turning manure or compost piles, repotting house plants, cleaning cellars or garages, removing carpets, performing demolition, digging in dirt, dusty conditions, cutting grass, raking leaves, hay rides, and barns. Aspergillus is also present in marijuana, so individuals with CGD should avoid smoking it. Individuals should see their doctors about even minor infections and colds to avoid life-threatening infections.

Children with CGD should receive routine vaccinations as recommended by the American Academy of Pediatrics, including live virus vaccines. Patients with CGD do not have any defect in immunity to viruses, so they are able to receive live virus vaccines without adverse effects. Many countries in Europe and Asia vaccinate children with the tuberculosis live bacterial vaccine, BCG, but this is not recommended practice in the U.S. Children with CGD should never receive the BCG live bacterial vaccine as it can result in a severe life-threatening systemic BCG infection. Salmonella vaccine should also be avoided.

Hematopoietic stem cell transplantation (HSCT), also known as bone marrow transplant, has been used in the treatment of chronic granulomatous disease (CGD). HSCT is performed using the patient’s own hematopoietic stem cells, which are harvested before transplantation and reinserted in the patient, allowing the transplanted stem cells to produce functional cells after engraftment that replaces the diseased cells. Stem cells may come from bone marrow, peripheral blood, or cord blood.

Most primary immunodeficiencies are caused by errors (mutations) in specific genes. Replacement of only the defective gene, called gene therapy, is currently available in clinical trials for X-linked CGD. In this therapy, some of the individual’s own hematopoietic stem cells are removed from the individual, and a healthy copy of the abnormal gene is added to the individual’s own stem cells. These corrected cells are then transfused back into the individual, similar to the procedure used for HSCT. As with HSCT and any treatment, the risks and benefits of the procedure must always be carefully weighed.

Living with CGD

Learning that you or a loved one has CGD can be overwhelming. You may be feeling anxious, confused, and probably filled with questions. What does this diagnosis mean? What happens next? Where do I look for treatment? How do I cope with this news? Where can I go to get my questions answered? What are my next steps? Take a breath. You are not alone. The Immune Deficiency Foundation has a deep understanding of the challenges and emotions you are facing, and there are many people, organizations, and resources to help you along your journey.

Your next few months will likely be busy, as you explore treatment and care options, navigate the healthcare system, and figure out insurance and more. Knowledge is power, so learning about the disease is the first step towards empowerment and living a healthier life.

The quality of life and longevity of patients with chronic granulomatous disease (CGD) has improved dramatically over the last 50 years with knowledge of the phagocytic cell abnormality and appreciation of the need for early, aggressive antibiotic therapy when infections occur.

The great majority of children with CGD can expect to live well into adulthood, and many adult patients with CGD have jobs, get married, and have children. However, patients with CGD remain at significant risk for infection throughout life. They must take their prophylactic drugs, remain cautious, and be vigilant to seek early diagnosis and treatment for possible infections.

Hospitalizations may be required for individuals with CGD to locate sites and causes of infections. Intravenous antibiotics may be needed for serious infections. Prophylactic antibiotics and treatment with interferon-gamma increase healthy periods. The vast majority of individuals reach adulthood when serious infections tend to occur less frequently.

Products approved to treat CGD in the U.S. 


(Manufacturer: Amgen Rare Disease )

Recombinant interferon gamma-1b. 
Approved to treat: Chronic granulomatous disease (CGD).

Report side effects/adverse events at 1-866-479-6742 (Option 1).

Other organizations that support CGD patients and families


Chronic Granulomatous Disease Association of America

CGD Association of America Logo

The Chronic Granulomatous Disease Association of America (CGDAA) is committed to advocating on behalf of patients, carriers, and families by providing clear, accurate, and independent news and information about CGD and advancing CGD research.

Chronic Granulomatous Disease Association

The Chronic Granulomatous Disease Association (CGDA), founded in 1982, is a nonprofit international support group for persons with chronic granulomatous disease (CGD), their families, and physicians. The organization networks patients with similar CGD-related illnesses or infecting organisms. It provides research grants aimed at finding a cure for CGD.

National Organization for Rare Disorders

NORD logo

The National Organization for Rare Disorders (NORD) is a non-profit organization that provides information, programs, and services for thousands of rare medical conditions, including primary immunodeficiencies.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA