Combined Immune Deficiency (CID) Syndromes

Inborn Error of Immunity

Combined immune deficiency (CID) syndromes are inherited conditions caused by a faulty gene. In children with CID, the immune system––the body’s defense against infections––is disabled. Two types of immune system cells, T cells and B cells, are defective in CID. Without a well-functioning immune system, children with CID get recurrent infections that don’t respond to medications and they don’t grow or gain weight as they should. Although both boys and girls can be born with CID, the condition occurs more often in boys.

Paul Szabolcs, MD

Chief, Bone Marrow Transplantation and Cellular Therapies

A pioneer in reduced-toxicity/intensity unrelated donor cord blood transplantation for inborn errors of immunity, Dr. Szabolcs is the first to demonstrate the feasibility of sequential lung and bone marrow transplantation from the same unrelated cadaveric donor.

What to Expect

If your child has been diagnosed with CID, 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.

How quickly can we get an appointment?

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

How long should we expect our first visit with the doctor to take?

You can expect your first visit to take from 4 to 6 hours. Your child will receive a comprehensive evaluation and may be seen by several other doctors and health care professionals in addition to our expert, Paul Szabolcs, MD, Chief of Bone Marrow Transplantation and Cellular Therapies.

What will happen during our first visit?

Your child will receive a comprehensive evaluation to establish or confirm a precise diagnosis and determine how much the disease has progressed. Because we work as a team here at the Center for Rare Disease Therapy, during your visit your child may be seen by several other doctors and health care professionals in addition to Dr. Szabolcs. These other health care professionals may include a specialist in genetic diseases, a specialist in brain diseases, a specialist in child development, a hearing specialist, and a physical therapist.

We understand that the whole family is affected when a child has a rare disease. We also know that you, the family, know your child better than anyone else. 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.

How long might we have to wait for test results?

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 more about Ally's experience with Combined Immune Deficiency at Children's Hospital.Ally's Story

Diagnosed with combined immune deficiency when she was 7, today Ally has a healthy immune system thanks to an umbilical cord blood transplant at Children’s Hospital and is awaiting an intestine transplant.

Learn More>>

Contact Us

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 CID, please contact:

Jodie Vento, MGC, LCGC
Phone: +1-412-692-RARE or 412-692-7273

Clinical Studies

Immunodeficiency and End-Stage Lung Disease Treatment

Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors

Read more

Non-Malignant Marrow Disorder Treatment using Reduced Intensity Conditioning – Phase II

Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

Read more