X-linked carriers
of chronic granulomatous disease (CGD)
X-linked carriers may experience CGD symptoms
While not every carrier has symptoms, it’s possible that more carriers experience symptoms and/or are at risk of infection than previously believed. CGD symptoms are easily mistaken for other conditions with similar symptoms, like lupus. Symptoms may also look or feel different for you than your child with CGD.
Common symptoms for X-linked carriers may include:
Skin rash on
face, hands,
and chest
Sensitivity
to the sun
Pain and
swelling in
the joints
Feeling
tired all of
the time
Gastrointestinal (GI) inflammation
that could lead to
weight loss
The X-linked carrier’s handbook
Finding out that you are an X-linked carrier of CGD may come as a complete surprise. Here’s some information to help you understand what it means for you and your family.
Take a test to find out if you have an increased risk
Up to 15% of X-linked carriers may experience severe infections.
If left untreated, those infections may become potentially life-threatening. There are two ways you or a member of your family can test for CGD.
DHR test
The dihydrorhodamine (dy-hydro-RO-da-meen) test, or DHR test, is the most common test used to diagnose CGD. The results will suggest if you have X-linked CGD or autosomal recessive CGD, or determine X-linked carrier risk of infection.
The DHR test can help a healthcare provider determine if you could be at an increased risk for infection. This is known as a percent DHR positive rate:
Genetic test
A genetic test is another way a doctor can diagnose you or a family member with CGD. This type of test uses a sample of blood, skin, hair, or saliva.
Risk can change over time
It’s possible for the immune system to change and begin working less effectively over time, which may increase your risk of CGD-related infections. Regular testing with a DHR test allows your doctor to set a baseline and track your DHR values.
Leading experts in CGD and primary immunodeficiency are working on better understanding X-linked carriers, their symptoms, management and potential treatment options.
Find a CGD specialist to help understand your risk of infection.
As an X-linked carrier of CGD, you are not alone
There is a community of women and girls just like you. Watch these videos to hear their experience and learn more about being an X-linked carrier.
All about X-linked carriers of CGD
Learn about CGD symptoms and how to manage your health.
Dr. Patel: I’m really excited to be here to answer questions about CGD.
Dr. Patel: Here’s our first question. What symptoms of CGD do X-linked carriers usually have?
Dr. Patel: That’s a great question. X-linked carriers can have a variety of symptoms, including lupus-like symptoms. They can have rashes, photosensitivity to the sun. They can have joint pain and joint swelling. They can even have fatigue, as well as weight loss, and including gastrointestinal symptoms such as vomiting and diarrhea.
Dr. Patel: The next question comes from Cristina in Kansas.
Cristina: “I have the genetic test results right here showing that I’m a carrier of CGD. What should I do with it?”
Dr. Patel: That’s a great question, Cristina. Those results should be evaluated by a person who is familiar with CGD. If you have signs and symptoms of CGD, you should also express that to your physician so that you can get treated for that. Family members should also be aware of your test results as other family members may need to be tested as well.
Dr. Patel: The next question is: I’m an X-linked carrier of CGD. Can I get serious infections like my son who has CGD?
Dr. Patel: Actually, yes. You’re at risk for serious bacterial and fungal infections. Just like your son, it’s important for X-linked carriers to find somebody to take care of them who knows about CGD and can help address your risk for serious infections.
Dr. Patel: We had another question that relates to the last question. How would I know if I am at risk for a serious infection?
Dr. Patel: X-linked carriers can have a test called dihydrorhodamine, or DHR. The DHR test is the test to diagnose CGD.
If you think about the immune system, your white blood cells are constantly fighting off infection. They are like little Pac Man gobbling up bacteria and fungi and then producing a chemical that destroys those organisms. What the DHR allow us to do is to detect that chemical. But when that chemical is absent, that can cause symptoms of CGD.
In patients who have CGD, white blood cells produce an abnormal amount that’s usually low and that can be picked up on the DHR test.
X-linked carriers who have a DHR test of usually less than 10% are at increased risk for infections.
Dr. Patel: Who has our next question?
Doris: Why do some X-linked carriers show symptoms and some don’t?
Dr. Patel: These are all such good questions.
Dr. Patel: Females have 2 X chromosomes. And 1 chromosome is typically inactivated. The faulty gene occurs on the X chromosome and more X chromosomes can be active with the faulty X-linked gene. In that case, there is a higher possibility that X-linked carriers could develop symptoms and that’s why getting tested with the DHR is so important.
Dr. Patel: The next question is: I’m focused on my son’s care for CGD and working with his pediatrician. What kind of doctor should I be seeing for myself?
Dr. Patel: X-linked carriers should be seeing physicians who have treatment experience with CGD. These can include infectious disease specialists and allergists and immunologists.
Dr. Patel: We have time for one more question.
I’m feeling really stressed these days. It’s a lot to take care of a child with a rare disease. Any advice for how to reduce my anxiety?
Boy, we hear that a lot...and it’s very important that X-linked carriers take the time to take care of themselves. Make sure that you eat a balanced diet, exercise, and get plenty of sleep. The better you can take care of yourself, the better you’ll be able to take care of your child with CGD.
Dr. Patel: The key takeaways for X-linked carriers are:
That X-linked carriers can be at risk for serious infections.
You should have a DHR test to assess your risk for infection.
And more importantly, your risk for infection can change over time.
Dr. Patel: If you have questions, reach out to the CGD Nurse Advocate Call Center at the number shown on the screen.
Remember this doesn’t replace conversations with your doctor.
Understanding and managing symptoms
Get insights and tips on CGD from other X-linked carriers of CGD.
Selma: So, once I found out that I was an X-linked carrier, I felt guilty. I felt like it was my fault that my boys had this disease. I couldn't really understand why me in a way. Some of the symptoms that I experienced is definitely the fatigue, the tiredness, …like, I'm always, always tired, no matter how much sleep I get. I've also noticed as I'm getting older like, my face, especially my cheeks, they're really, really red.
Selma: Elisha what symptoms do you experience?
Elisha: So, my symptoms, I am sensitive, more sensitive to the [00:07:00] sun. I do get red in the face as well, those rashes and things like that. I can really speak to the chronic fatigue, I suffer from that. As I'm getting older, I'm having a lot more joint pain and I've always had GI issues in my life.
Elisha: What about you, Cristina?
Cristina: My X-linked CGD symptoms have changed over time. When I was younger, I used to have GI symptoms as well as mouth ulcers, which prevented me from eating a whole lot of food and also skin rashes. But as I got older, I noticed that I'm now more sensitive to light.
Elisha: Now I know as mothers and CGD mom caregivers, it is really hard to take care of yourself and it has taken me many, many years …to actually take care of myself... Now I finally was able to see a doctor …what about you Cristina and Selma? Have you guys had the chance to see any doctors concerning your X-linked carrier status?
Cristina: Not for me. I'm guilty of being my own careless caregiver….Now that Liam is in a much better place. I hope that I can finally look at a local specialist who's familiar with CGD. What about you Selma?
Selma: In the same boat as you Cristina. I haven't seen anyone yet.
Selma: I do realize that there is a potential of X-linked CGD carriers to be at a risk of getting infections.
Elisha: So, that's my understanding as well. That's why I ended up going to see an immunologist.
Elisha: One of the first things that my immunologist suggested that I get was the dihydrorhodamine or DHR test for myself.
The percentage of the amount of working neutrophils that you have can really affect what kind of symptoms you’re having, and the lower amount of working neutrophils that you have can raise the amount of symptoms that you’re having. And this amount can actually change over time.
So having the DHR test being taken over time, over and over again, as recommended by your doctor, is really, really important to have, so that you can take care of yourself and keep an eye on how your health is doing and what steps you might need to take as far as your health goes.
Cristina: I’m curious to see what the doctor will tell me about my CGD carrier status…and what type of medical care I would need. That way I can continue being a good, reliable caregiver for my son.
[Audio read of ISI]
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Approved Uses and Important Safety Information
What is ACTIMMUNE® (Interferon gamma-1b) used for?
ACTIMMUNE is 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.
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.
When should I not take ACTIMMUNE?
Do not use ACTIMMUNE if you are allergic to interferon gamma, E. coli-derived products, or any ingredients contained in the product.
What warnings should I know about ACTIMMUNE?
ACTIMMUNE can cause flu-like symptoms. At high doses, the resulting symptoms may worsen some pre-existing heart conditions.
ACTIMMUNE may cause decreased mental status, such as confusion, depression, and hallucinations. It may also cause difficulty walking and dizziness, particularly at high doses. These symptoms usually resolve a few days after reducing the amount of ACTIMMUNE you take, or if you are no longer taking it at all, as prescribed by your doctor.
Use of ACTIMMUNE may affect bone marrow function and may limit the production of cells important to your body. This can be severe and usually goes away after reducing the amount of ACTIMMUNE you take or if you stop taking it entirely as prescribed by your doctor.
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 of age.
In rare cases, ACTIMMUNE can cause severe allergic reactions and/or rash. If you experience a serious reaction to ACTIMMUNE, stop taking it immediately and contact your doctor or seek medical help.
What should I tell my healthcare provider?
Be sure to tell your doctor about all the medications you are taking.
Tell your doctor if you:
- are pregnant or plan to become pregnant or plan to nurse
- have a heart condition such as irregular heartbeat, heart failure, or decreased blood flow to your heart
- have a history of seizures or other neurologic disorders
- have, or have had, reduced bone marrow function. Your doctor will monitor these cells with blood tests at the beginning of therapy and every 3 months while you are taking ACTIMMUNE
What are the side effects of ACTIMMUNE?
The most common side effects with ACTIMMUNE are “flu-like” symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease the longer you take ACTIMMUNE. Taking ACTIMMUNE at bedtime may help with these symptoms, and acetaminophen may help prevent fever and headache.
What other medications might interact with ACTIMMUNE?
Some drugs, like certain chemotherapy drugs, may interact with ACTIMMUNE and could make it more likely that your heart or nervous system could be damaged. Tell your doctor about all the medicines you take.
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/safety/medwatch, or call 1-800-FDA-1088.
The risk information provided here is not comprehensive. To learn more, talk about ACTIMMUNE with your health care provider or pharmacist. The FDA-approved product labeling can be found at www.ACTIMMUNE.com or 1-866-479-6742.
Approved Uses and Important Safety Information
What is ACTIMMUNE® (Interferon gamma-1b) used for?
Approved Uses and Important Safety Information
What is ACTIMMUNE® (Interferon gamma-1b) used for?
Approved Uses and Important Safety Information
What is ACTIMMUNE® (Interferon gamma-1b) used for?
ACTIMMUNE is used to treat chronic granulomatous disease, or CGD.
Approved Uses and Important Safety Information
What is ACTIMMUNE® (Interferon gamma-1b) used for?
ACTIMMUNE is used to treat chronic granulomatous disease, or CGD.
Approved Uses and Important Safety Information
What is ACTIMMUNE® (Interferon gamma-1b) used for?
ACTIMMUNE is 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.
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.
When should I not take ACTIMMUNE?
Do not use ACTIMMUNE if you are allergic to interferon gamma, E. coli-derived products, or any ingredients contained in the product.
What warnings should I know about ACTIMMUNE?
ACTIMMUNE can cause flu-like symptoms. At high doses, the resulting symptoms may worsen some pre-existing heart conditions.
ACTIMMUNE may cause decreased mental status, such as confusion, depression, and hallucinations. It may also cause difficulty walking and dizziness, particularly at high doses. These symptoms usually resolve a few days after reducing the amount of ACTIMMUNE you take, or if you are no longer taking it at all, as prescribed by your doctor.
Use of ACTIMMUNE may affect bone marrow function and may limit the production of cells important to your body. This can be severe and usually goes away after reducing the amount of ACTIMMUNE you take or if you stop taking it entirely as prescribed by your doctor.
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 of age.
In rare cases, ACTIMMUNE can cause severe allergic reactions and/or rash. If you experience a serious reaction to ACTIMMUNE, stop taking it immediately and contact your doctor or seek medical help.
What should I tell my healthcare provider?
Be sure to tell your doctor about all the medications you are taking.
Tell your doctor if you:
- are pregnant or plan to become pregnant or plan to nurse
- have a heart condition such as irregular heartbeat, heart failure, or decreased blood flow to your heart
- have a history of seizures or other neurologic disorders
- have, or have had, reduced bone marrow function. Your doctor will monitor these cells with blood tests at the beginning of therapy and every 3 months while you are taking ACTIMMUNE
What are the side effects of ACTIMMUNE?
The most common side effects with ACTIMMUNE are “flu-like” symptoms such as fever, headache, chills, muscle pain, or fatigue, which may decrease the longer you take ACTIMMUNE. Taking ACTIMMUNE at bedtime may help with these symptoms, and acetaminophen may help prevent fever and headache.
What other medications might interact with ACTIMMUNE?
Some drugs, like certain chemotherapy drugs, may interact with ACTIMMUNE and could make it more likely that your heart or nervous system could be damaged. Tell your doctor about all the medicines you take.
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/safety/medwatch, or call 1-800-FDA-1088.
The risk information provided here is not comprehensive. To learn more, talk about ACTIMMUNE with your health care provider or pharmacist. The FDA-approved product labeling can be found at www.ACTIMMUNE.com or 1-866-479-6742.