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Chronic granulomatous disease (CGD) is an inherited condition of the immune system. It's known as a "primary immunodeficiency."
Children inherit the gene for the CGD from their parents, who may not have any symptoms.
The body's immune system fights infections and anything it sees as foreign invaders to the body.
A healthy immune system creates masses of immune cells called "granulomas" at infection sites. Within these granulomas are immune cells called neutrophils that make hydrogen peroxide to fight infection. As the infection clears, the granulomas go away.
In CGD, neutrophils aren't able to make the hydrogen peroxide our bodies need to fight certain invaders like bacteria or fungus.
Since the neutrophils can't control the bacteria or fungus, they can spread causing severe infections. The body realizes the immune system isn't clearing the infection, so the granulomas keep growing.
This disease is rare. Doctors find CGD in only 4 or 5 people per million.
CGD is more common in boys than girls.
Depending on how severe CGD is, children may have symptoms before one year of age or not until later in childhood.
Symptoms of CGD are much the same as symptoms of other childhood illnesses. But the symptoms of CGD may be more severe and last longer.
CGD symptoms are:
Children with primary immune deficiencies like CGD are:
Granulomas may also form on bones, in the brain, and in the intestinal and urinary tract, causing blockages.
Doctors diagnose CGD through blood tests. Testing for certain immune markers in the blood lets us see how well the immune system is functioning.
Your child may also need chest x-rays and other body scans. These tests will let us see if CGD has caused damage to the lungs or other organs and bones.
The goal of treating CGD is to control the symptoms.
Children with CGD may need aggressive treatment for their infections. Sometimes, doctors prescribe antibiotics even when a child doesn't have any infections to prevent them.
Children whose disease is more severe may need a bone marrow or cord blood transplant to replace their immune system.
If CGD is causing severe health problems — such as lung disease or lung failure — your child may benefit from a lung transplant.
The Hillman Center for Pediatric Transplant has the only program in the world that offers tandem lung and bone marrow transplants.
We also pioneered a reduced-intensity bone marrow transplant program. The program helps reduce the negative effects a bone marrow or stem cell transplant has on the body's organs.
Because transplants are high-risk treatments, your child may need to remain on lifelong medication.
Chief, Bone Marrow Transplantation and Cellular Therapies
Dr. Szabolcs is a pioneer in reduced-toxicity/intensity unrelated donor cord blood transplant for inborn errors of immunity. He's the first to prove the feasibility of sequential lung and bone marrow transplantation from the same unrelated deceased donor.
If a doctor diagnosed your child with chronic granulomatous disease, we want you to know you're not alone. The Center for Rare Disease Therapy is here to help.
To make an appointment for your child or refer a patient for CGD care, contact us by:
Here’s what you can expect when you come to us for your child's first CGD consult.
We can often see a new patient within 1 to 2 weeks.
We'll ask the referring doctor to send your child's medical records so we can review them before your visit.
You can expect your first visit to take from 4 to 6 hours.
Your child will receive a complete assessment from one of the center's doctors.
Your doctor will make or confirm a CGD diagnosis and find out how much the disease has progressed.
Because we work as a team here at the center, other doctors and staff might see your child during your visit.
These may include a:
Members of your child's chronic granulomatous disease care team will talk with you about:
If a blood or bone marrow transplant might be a treatment option, we'll discuss the details. We'll let you know how you and your child can prepare for the transplant.
By the end of your visit, you will have a care plan tailored to your child’s needs. We'll also schedule a follow-up visit.
You'll meet our social worker nurse practitioner (NP). You can contact our NP by phone or video conference with any concerns you have between now and your next appointment.
Before you leave, please feel free to ask us about your child's CGD diagnosis, treatment, or anything else on your mind.
We'll call you within 2 weeks to discuss the test results and next steps for your child's CGD care.
You can also find your child's test results if you signed up for myCHP — Children's patient portal.
myCHP lets you manage your child's health online. It's free for patients, parents, and guardians of UPMC Children's Hospital of Pittsburgh.
When a child has a rare disease like CGD, it affects the whole family.
At the Center for Rare Disease Therapy, we see each family member as our partners.
The best care approach happens when we merge our CGD expertise with your knowledge of what’s best for your child.
Contact us to make an appointment or learn more about CGD:
Learn how families are finding help and hope at the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh. View Center for Rare Disease Therapy patient stories. »
Bilateral Orthotopic Lung Transplant (BOLT) in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant (BMT) From Partially HLA-Matched Cadaveric Donors
Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
*Original research initiated by investigators at UPMC Children’s Hospital of Pittsburgh.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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