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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.
Most often:
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 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.
CGD is rare. Doctors find it 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 age one 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 working.
Your child may also need chest x-rays and other body scans. These tests will let us see if CGD has damaged 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 to prevent infections even when a child doesn't have any.
Children whose disease is more severe may need a bone marrow or cord blood transplant to replace their immune system.
If CGD causes severe health problems — such as lung disease or lung failure — a transplant my benefit your child.
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. It 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 CGD, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh 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.
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 at the CRDT, other doctors and staff might see your child during your visit.
These may include a:
Members of your child's CGD 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 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.
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 CRDT, 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.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
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
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.