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Chronic granulomatous disease, or C-G-D, is a rare disease that about 20 children are born with every year in the United States.
People with CGD have an immune system that doesn’t work properly, so they are at more of a risk of getting serious, life-threatening infections that lead to hospitalization.
How does your immune system work? When the immune system finds harmful things in the body, like certain types of fungi and bacteria, it sends extra immune cells, called phagocytes, to the site to kill them. This usually stops an infection before it starts.
People with CGD can usually stop viral infections like a cold or flu, but they can’t stop infections caused by certain fungi and bacteria.
As the immune cells try and fail to kill the fungi or bacteria, they build up and form hard lumps called granulomas.
People with CGD can experience:
And vomiting
How do you get CGD?
CGD isn’t contagious like a cold. It’s a genetic condition, which means you’re born with it. There are 2 major ways that CGD can be passed down to a child.
Autosomal recessive CGD occurs when both parents pass on a faulty gene to their child.
In autosomal recessive, both parents are carriers of CGD. They have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right.
But the most common way CGD is inherited is X-linked. It is passed down from the mother to her sons because she carries a faulty X chromosome. For this reason, usually only males get X-linked CGD.
In X-linked, the mother is the carrier of CGD.
How to lower the chance of getting serious infections
There are ways to try to help make serious infections with CGD less likely. Medicines to help treat CGD includes antibiotics, antifungals, and interferon gamma, known as ACTIMMUNE®.
ACTIMMUNE® helps lower the risk of serious infection in people with CGD. The most common side effects with ACTIMMUNE® are flu-like symptoms, which may decrease in seriousness as treatment continues.
ACTIMMUNE® can do this because it contains a protein called interferon gamma that’s almost the same as the one the immune system makes naturally as it fights infections.
These treatments help make it possible for people with CGD to spend less time in the hospital and more time doing what they enjoy most.
CGD Facts
CGD is a rare disease. There are about 20 people born with CGD each year in the United States.
People with CGD have an immune system that doesn’t work properly. A healthy immune system usually prevents infections from becoming serious. An immune system with CGD can typically stop viral infections like a cold or flu, but can’t stop serious infections started by certain bacteria and fungi. Since CGD is a chronic condition, it means that a person will have the disease for all of his or her life.
Hear about how CGD was first identified.
Read the full video transcriptChronic granulomatous disease, or C-G-D, is a rare disease that about 20 children are born with every year in the United States.
People with CGD have an immune system that doesn’t work properly, so they are at more of a risk of getting serious, life-threatening infections that lead to hospitalization.
How does your immune system work? When the immune system finds harmful things in the body, like certain types of fungi and bacteria, it sends extra immune cells, called phagocytes, to the site to kill them. This usually stops an infection before it starts.
People with CGD can usually stop viral infections like a cold or flu, but they can’t stop infections caused by certain fungi and bacteria.
As the immune cells try and fail to kill the fungi or bacteria, they build up and form hard lumps called granulomas.
People with CGD can experience:
How do you get CGD?
CGD isn’t contagious like a cold. It’s a genetic condition, which means you’re born with it. There are 2 major ways that CGD can be passed down to a child.
Autosomal recessive CGD occurs when both parents pass on a faulty gene to their child.
In autosomal recessive, both parents are carriers of CGD. They have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right.
But the most common way CGD is inherited is X-linked. It is passed down from the mother to her sons because she carries a faulty X chromosome. For this reason, usually only males get X-linked CGD.
In X-linked, the mother is the carrier of CGD.
How to lower the chance of getting serious infections
There are ways to try to help make serious infections with CGD less likely. Medicines to help treat CGD includes antibiotics, antifungals, and interferon gamma, known as ACTIMMUNE®.
ACTIMMUNE® helps lower the risk of serious infection in people with CGD. The most common side effects with ACTIMMUNE® are flu-like symptoms, which may decrease in seriousness as treatment continues.
ACTIMMUNE® can do this because it contains a protein called interferon gamma that’s almost the same as the one the immune system makes naturally as it fights infections.
These treatments help make it possible for people with CGD to spend less time in the hospital and more time doing what they enjoy most.
When the immune system finds harmful things in the body, like bacteria and fungi, it sends immune cells to kill them. If the infection doesn’t go away, more immune cells show up to try to kill the bacteria or fungi. In time, the extra immune cells build up and form a hard lump called a granuloma. This is how the disease got its name. As the granulomas build up, they can cause problems in places like the intestine, and can cause symptoms such as:
These symptoms are similar to symptoms of Crohn's disease, which is a type of inflammatory bowel disease (IBD).
CGD Pathogens
Pathogens include harmful bacteria and fungi that can cause serious, potentially life-threatening infections in people with CGD. A healthy immune system usually prevents infections from becoming serious. But people with CGD are at a greater risk of unusual and repeat infections because their immune system can’t fight them off.
Bacteria and fungi can be found in places all around us:
gardens, house plants
playgrounds
lakes, ponds
new construction
carpets, pets
barns, sheds, basements, caves
Certain times of the year can cause bacteria and fungi to be more plentiful.
CGD & Genetics
CGD isn’t something you can catch. It’s a genetic condition, which means you’re born with it. It’s passed down to a child from 1 or both parents who can be “carriers.” A carrier doesn’t have the disease, but his or her children can end up with it. Carriers of CGD have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right. There are 2 types of CGD: X-linked and autosomal recessive.
The most common form of CGD is X-linked. It’s passed down from the mother because she carries a faulty X chromosome. This means she is a carrier of CGD. Usually only males get X-linked CGD. A male born to a carrier mother has a 50% chance of having CGD.
Both males and females can get autosomal recessive CGD. A child needs 2 copies of a gene that doesn’t work, 1 from each parent, to have autosomal recessive CGD. Any child born of carrier parents has a 25% chance of having autosomal recessive CGD, and a 50% chance of being a carrier.
X-linked carriers can experience various symptoms, and may be at risk for serious infections. Mothers of boys with X-linked CGD, or X-linked carriers, often experience CGD-related, lupus-like symptoms, which can include:
Learn more about how CGD is passed down in families.
Read the full video transcriptDr. Hana Neibur: CGD is a genetic disease, which means it’s passed down from parents to children. There are few different ways that can happen. Sometimes, it’s mothers passing down the gene to sons and daughters. Now, because this can be an X-linked disease, and girls have two X chromosomes, girls end up being carriers. The normal chromosome or the normal expression of the gene allows them to have enough function that they don’t usually have the same problems as a child who’s affected.
But boys get their X chromosome from their mother and their Y chromosome from their father, and so they don’t have that second X chromosome that gives them a normal gene. They only have the gene that causes the problem. So this is why boys are generally affected and girls are generally carriers. There are also autosomal recessive forms of CGD, but it’s carried on a different chromosome, and since you get one copy from each parent, each parent has a bad copy. The parent is not affected. But when a child happens to have the bad luck of getting two bad copies, the child actually has the disease, as opposed to, if they get one bad copy and they’re a carrier, or no bad copies and they’re not affected at all.
CGD Symptoms
CGD is usually diagnosed before a child is 5 years old. Some males and females with milder forms of CGD may not show signs until they are a teen or an adult. Common signs and symptoms to look for include:
Other symptoms include diarrhea, weight loss, or abdominal pain due to inflammation in the intestines, pain or difficulty eating or going to the bathroom, fever, cough, joint pain, and being tired all of the time.
When determining whether you have CGD, it’s important to discuss your entire medical history with your doctor. CGD can be misdiagnosed as inflammatory bowel disease (IBD) because the symptoms are similar.
Check out these tips on avoiding places and things that can cause infections
CGD Testing
A doctor can diagnose CGD by ordering a lab test called a dihydrorhodamine test, or DHR test. This involves taking a sample of blood and sending it to a lab. The DHR test is preferred over other CGD tests because it’s simple and more accurate. The DHR test can also be used to find out if any other family members—such as a brother, sister, or aunt—have CGD or are X-linked carriers of CGD. If any family members have CGD-like symptoms, the test can confirm that person has CGD.
CGD Carrier
Hearing that you’re a carrier of CGD could come as a complete surprise to you. You may be thinking “How did this happen?” or “What did I do to get this?” Remember, you did nothing wrong. CGD is just part of who you are. It’s common for carriers of CGD to have feelings of sadness or guilt, especially in the beginning. This may lead to trouble sleeping and anxiety. If you’re having any of these symptoms and they continue over time, it’s important to talk to your doctor to get the support you may need. When you’re taking care of yourself, you're making sure that you’re healthy enough to care for your child with CGD, too.
Female carriers of CGD can have symptoms that may need medical attention. For example, it’s common for carriers to have symptoms of a type of lupus. Depending on how serious the symptoms are, your doctor may prescribe medicine and suggest treatments that work best for you.
Symptoms to look for may include:
Besides your doctor, a genetic counselor plays an important role in understanding CGD. A genetic counselor can:
Family Testing
CGD is a genetic condition, which means you’re born with it. It’s passed down to a child from their mother who is a “carrier.”
A female carrier doesn’t have the disease but may experience some symptoms of CGD, like skin sensitivity, sores inside the mouth, or lupus-like symptoms. Her children can inherit CGD and pass it on. A father who has CGD can also pass on the condition to his daughters, who will then be carriers.
If your daughter is a carrier, her sons will have a:
Her daughters will have a:
If your son has CGD:
Family members who have signs and symptoms of CGD may be tested for the disease.
Learn more about CGD genetics and family testing.
Read the full video transcriptVoiceover/Sound
So when I meet a family for the first time and they have questions about, you know, how did my child get this disease we go through the mother’s typically the carrier and they have a non-carrier dad, and then from that, they could have a boy with CGD, a boy or girl without CGD. We recommend that if they’re planning on having additional children, that they always seek genetic counseling and speak to their physician.
When I work with families and CGD’s the diagnosis, typically there’s not just one case of CGD. If you look back, somewhere along the line, there was somebody else that maybe was an uncle that died young or some type of unknown disease that they couldn’t identify, which may or may not have been CGD.
A lot of times a mother or a father will say, oh, well, somebody else in my family has similar symptoms that nobody’s ever been able to explain.
Sometimes with carriers, they have some symptoms like sensitivity to sunlight, weight changes that can’t be explained, pains in their joints is another one that’s kind of common. And then a lot of times the carrier sometimes will have, like, almost, like, lupus-like symptoms that they can’t really explain.
We do have educational material about the signs and symptoms of CGD. If they’re having side effects that maybe match up I would suggest that they follow up with their primary care doctor and let them know they’re interested in being tested for CGD.
I find that family members want to get tested. And to be honest they’re kind of relieved that you know, maybe there’s an answer to their questions.
CGD Treatments
In addition to making health and lifestyle changes, there are medicines that can help manage CGD. These medicines include antibiotics, antifungals, and ACTIMMUNE® (Interferon gamma-1b). It’s important to talk to your doctor about treatment options that work best for you or your loved one.
ACTIMMUNE® helps lower the risk of serious infection* in people with CGD. It can do this because it contains a protein called interferon gamma. This protein is almost the same as the one the body’s own immune system makes naturally as it fights infections. That’s why ACTIMMUNE® plays an important role in helping to protect people from serious infections. ACTIMMUNE® is often taken along with prescribed antibiotic and antifungal medicine. The most common side effects found during the medical study of ACTIMMUNE® were flu-like symptoms and included:
These symptoms may lessen as treatment continues.
See how ACTIMMUNE® helps lower the risk of serious infections
Please see Important Safety Information and ACTIMMUNE® Full Prescribing Information.
Hear about an important discovery in treating CGD.
Read the full video transcriptDr. Harry Hill: This disease was called fatal granulomas disease when I first started but so many of the patients unfortunately passed away. They got terrible infections and to be very honest, we didn't know a whole lot about what to do about this.
Patients would get terrible infections, particularly with fungi. Particularly with one called Aspergillus. And so we treated--I think we treated 128 patients with either interferon or with placebo. Then we counted the number of infections, number of serious infections, the number of fungal infections, the whole thing during this period of time. And by George, after like eight or nine months, the statistics were so profound, it showed such a beneficial effect of using gamma interferon, that the study was stopped. It really helps to lower the number of infections, and particularly, the number of very serious infections. I explain this to the parents. Explain how it makes you feel a little bit like you got the flu because if you get the flu, you're going to make interferon gamma might give you a little bit of chills. May make you sleepy and might even probably give you a headache. Everybody was recommended to go on to the interferon because it markedly decreased almost in half the number of infections which had occurred.
Infections from bacteria can appear in many places, including the skin, lungs (pneumonia), bones, and lymph nodes. Antibiotics, such as Bactrim®, are used to help prevent bacterial infections by killing or slowing down the growth of bacteria. Common side effects of antibiotics include diarrhea and upset stomach.
Infections from fungi, like Aspergillus species, can be very serious for people with CGD. Fungal infections can appear in many places, including the lungs (pneumonia), liver, and bones. Antifungal medicine, such as Sporanox®, kills the fungus and helps prevent it from spreading and damaging the body.
A bone marrow transplant (BMT) is currently the only proven cure for CGD, although research in this area is ongoing and it may not work every time. The process of performing a BMT involves taking healthy immune cells from 1 person and putting them into the body of a person with CGD. The person getting the transplant is called the "host" and the person giving the immune cells is called the "donor." When sucessful, the immune system of the person with CGD becomes an immune system that can fight off infections. Talk to your doctor for more information about the risks and benefits of a bone marrow transplant.
*An infection is serious if you have to go to the hospital and get intravenous (IV) antibiotics.
Although there are numerous challenges to getting a BMT, here are two key areas to be aware of.
To help lower the chances of transplant rejection or getting GvHD, it’s best to have a donor who is related to the person with CGD, otherwise, the chances of a BMT failure can be higher.
Every person with CGD is different. While a BMT might be right for 1 person, another person may benefit from medicines to manage their CGD. That’s why it’s important to talk to your doctor about the pros and cons of a BMT for your situation. Depending on how serious your CGD is, your doctor may recommend taking an antifungal, an antibiotic, and ACTIMMUNE® (Interferon gamma-1b) to help manage your CGD. You can learn more about the types of BMT and selecting a donor at Living with CGD.
The importance of staying engaged and consistent with a treatment plan.
Read the full video transcriptDr. Hana Neibur: CGD changes with your age. What helps decrease, particularly, the frequency of infections, are taking medications on a daily basis to prevent infections. As patients get older and become adults, infections do tend to increase in frequency.
Dr. Artemio Jongco: And so it’s really important that all parties involved—patients, caregivers, and their providers--start talking early and transparently about transitioning from one stage of life to another. By building that relationship slowly over time and being clear with what you need and what you want, then open lines of communication can facilitate smoother transitions.
[Dr. Hana Neibur:] If there are problems with taking your medications, talk to your doctor about that. It’s important to not become complacent about taking those medications. It is so important to try and prevent infections and the damage they can do afterwards.
[Dr. Artemio Jongco:] And hopefully, during times of stress, like when the patient is sick or when the patient’s about to make a major life decision like go to school, go away to school for the first time, all the parties can get together and come up with a plan that works for your particular situation. Because no one plan fits everyone. And you really need to tailor the plan to fit your needs.
Connect with a CGD Nurse Educator. Get practical lifestyle advice. Stay up to date on CGD info.
ACTIMMUNE® is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually diagnosed in childhood, that affects some cells of the immune system and the body's ability to fight infections effectively. CGD is often treated (though not cured) with antibiotics, antifungals, and ACTIMMUNE.
ACTIMMUNE is also used to slow the worsening of severe, malignant osteopetrosis (SMO). SMO is a genetic disorder that affects normal bone formation and is usually diagnosed in the first few months after birth.
Don't use ACTIMMUNE if you are allergic to interferon-gamma, E. coli derived products, or any ingredients contained in the product.
At high doses, ACTIMMUNE can cause (flu-like) symptoms, which may worsen some pre-existing heart conditions.
ACTIMMUNE may cause decreased mental status, walking disturbances, and dizziness, particularly at very high doses. These symptoms are usually reversible within a few days upon dose reduction or discontinuation of therapy.
Bone marrow function may be suppressed with ACTIMMUNE, and decreased production of cells important to the body may occur. This effect, which can be severe, is usually reversible when the drug is discontinued or the dose is reduced.
Taking ACTIMMUNE may cause reversible changes to your liver function, particularly in patients less than 1 year old. Your doctor should monitor your liver function every 3 months, and monthly in children under 1 year.
In rare cases, ACTIMMUNE can cause severe allergic reactions and/or rash. If you experience a serious reaction to ACTIMMUNE, discontinue it immediately and contact your doctor or seek medical help.
Be sure to tell your doctor about all the medications you are taking.
Tell your doctor if you:
The most common side effects with ACTIMMUNE are "flu-like" symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease in severity as treatment continues. Bedtime administration of ACTIMMUNE may help reduce some of these symptoms. Acetaminophen may be helpful in preventing fever and headache.
Some drugs may interact with ACTIMMUNE to potentially increase the risk of damage to your heart or nervous system, such as certain chemotherapy drugs. Tell your doctor about all other medications you are taking.
Avoid taking ACTIMMUNE at the same time as a vaccination.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.
The risk information provided here is not comprehensive. To learn more, talk about ACTIMMUNE with your healthcare provider or pharmacist. The FDA-approved product labeling can be found at http://www.ACTIMMUNE.com or 1-866-479-6742.
ACTIMMUNE® is part of a drug regimen used to treat Chronic Granulomatous Disease, or CGD. CGD is a genetic disorder, usually diagnosed in childhood, that affects some cells of the immune system and the body's ability to fight infections effectively. CGD is often treated (though not cured) with antibiotics, antifungals, and ACTIMMUNE.
ACTIMMUNE is also used to slow the worsening of severe, malignant osteopetrosis (SMO). SMO is a genetic disorder that affects normal bone formation and is usually diagnosed in the first few months after birth.
Don't use ACTIMMUNE if you are allergic to interferon-gamma, E. coli derived products, or any ingredients contained in the product.
At high doses, ACTIMMUNE can cause (flu-like) symptoms, which may worsen some pre-existing heart conditions.
ACTIMMUNE may cause decreased mental status, walking disturbances, and dizziness, particularly at very high doses. These symptoms are usually reversible within a few days upon dose reduction or discontinuation of therapy.
Bone marrow function may be suppressed with ACTIMMUNE, and decreased production of cells important to the body may occur. This effect, which can be severe, is usually reversible when the drug is discontinued or the dose is reduced.
Taking ACTIMMUNE may cause reversible changes to your liver function, particularly in patients less than 1 year old. Your doctor should monitor your liver function every 3 months, and monthly in children under 1 year.
In rare cases, ACTIMMUNE can cause severe allergic reactions and/or rash. If you experience a serious reaction to ACTIMMUNE, discontinue it immediately and contact your doctor or seek medical help.
Be sure to tell your doctor about all the medications you are taking.
Tell your doctor if you:
The most common side effects with ACTIMMUNE are "flu-like" symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease in severity as treatment continues. Bedtime administration of ACTIMMUNE may help reduce some of these symptoms. Acetaminophen may be helpful in preventing fever and headache.
Some drugs may interact with ACTIMMUNE to potentially increase the risk of damage to your heart or nervous system, such as certain chemotherapy drugs. Tell your doctor about all other medications you are taking.
Avoid taking ACTIMMUNE at the same time as a vaccination.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.
The risk information provided here is not comprehensive. To learn more, talk about ACTIMMUNE with your healthcare provider or pharmacist. The FDA-approved product labeling can be found at http://www.ACTIMMUNE.com or 1-866-479-6742.
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