Read the Latest
Children's Hospital is part of the UPMC family.
Be safe anytime, anywhere.
To find a pediatrician or pediatric specialist, please call 412-692-7337 or search our directory.
A resource for our network of referring physicians.
For more information about research, please call our main office at 412-692-6438.
Ranked #6 Nationally by U.S. News & World Report.
Severe combined immunodeficiency (SCID) is an inherited immune system disease, known as a “primary immunodeficiency.”
Children inherit this disease from their parents. SCID's multiple genetic mutations cause multiple defects in the immune system.
The body's immune system takes care of fighting infections and anything it sees as foreign invaders to the body.
In SCID disease — the most severe primary immunodeficiency — the body has little to no immune response.
Because of this, children with this disease have a high risk of getting infections that become severe.
Bacteria, viruses, fungus, and other germs that are not harmful to children with normal immunity can be fatal to children with SCID.
Doctors see this disease in very young children.
When babies are born, their systems have protective immunity from antibodies they received while in the womb. As these antibodies from the mother leave the system over the first few months, the symptoms of SCID begin.
Severe combined immunodeficiency is extremely rare. It occurs in about one in 100,000 births.
It may be more common (but still rare) in some Native Americans and people of Turkish descent.
Symptoms of SCID are much like those of other childhood illnesses. But, SCID symptoms may last longer and become severe faster than symptoms of other diseases.
Symptoms may include:
Children with primary immune deficiencies like SCID are more prone to infections than others are. Their bodies may not clear these infections at all when treated.
Infections that wouldn't have much effect on other children can quickly become life-threatening in kids with SCID.
Children with this condition may need to be physically isolated to protect them from germs.
Most states now screen newborns for this disorder, because although it is rare, it's vital to treat it early.
Doctors diagnose SCID by a blood test that measures lymphocytes — a type of white blood cell.
More blood tests can show what type of SCID disease is present, and which immune cells aren't working properly.
The goal of SCID treatment is to prevent your child from getting infections, which can become life-threatening.
Enzyme-replacement therapy can treat some types of SCID, but not all kinds. This treatment doesn't cure SCID.
The most accepted treatment that cures SCID is bone marrow transplant. Many children need to have a bone marrow transplant before the age of three months.
The Hillman Center for Pediatric Transplant 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.
Chief, Bone Marrow Transplantation and Cellular Therapies
Dr. Szabolcs is a pioneer in reduced-toxicity/intensity unrelated donor cord blood transplant for inborn immunity errors. He's the first to show promise in sequential lung and bone marrow transplantation from the same unrelated deceased donor.
If your child has been diagnosed with SCID, we want you to know that you are not alone – the Center for Rare Disease Therapy is here to help. Here’s what you can expect when you come to us for a consultation.
At the Center for Rare Disease Therapy, a doctor specializing in disorders of immunity can usually see a new patient within 1 to 2 weeks. To make an appointment, please call Jodie Vento at 412-692-7273 or send an email to firstname.lastname@example.org.
You can expect your first visit to take from 4 to 6 hours. Your child will receive a complete evaluation and may be seen by several doctors and other health care professionals.
Your child will receive a complete evaluation to establish or confirm a precise diagnosis and determine how much the disease has affected the child. Because we work as a team here at the Center for Rare Disease Therapy, during your visit, your child may be seen by several doctors and other health care professionals. These other health care professionals may include a neurologist, a heart specialist, a surgeon, a nutritionist, a genetic counselor, a psychologist, and a specialist in child development.
We understand that the whole family is affected when a child has a rare disease. We see each family as our partner in caring for their child. We think the best approach to caring for a child with a rare disease emerges when we combine our depth of experience in rare diseases with your expertise in what’s best for your child.
We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it. We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. Please feel free to ask our specialists any questions you have about your child’s disease, treating and caring for your child, or anything else that is on your mind.
By the end of your visit, you will have a care plan tailored to your child’s needs and an appointment for a follow-up visit in 3 months. You will be introduced to our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.
Depending upon the types of tests that the doctors order, you can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP, which is provided at no cost to patients, parents, and guardians.
Learn how families are finding help and hope through the expertise of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.
View patient stories>>
At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with SCID, please contact:
Jodie Vento, MGC, LCGC
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
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.