Center for Genetic Immune Diseases

The Center for Genetic Immune Diseases specializes in the diagnosis and treatment of genetic primary immune deficiency (PID) and immune regulatory disorders (PIRD), also known as inborn errors of immunity. 

How do we diagnose genetic immune diseases?

Our approach to your child’s diagnosis is personalized, cutting-edge and exhaustive.

  • We use multiple state-of-the-art diagnostic tools to identify the genetic cause of many immune diseases, including tests that are not readily available in most laboratories.
  • We also perform genetic sequencing or interpret existing genetic sequencing results to cast a wide net in the search for a genetic cause of your or your child’s symptoms.

Our multidisciplinary team includes experts in pediatric immunology, hematology-oncology, rheumatology, pulmonology, allergygastroenterology and endocrinology. We also partner with the Undiagnosed Diseases Network to give us access to a team of physicians and researchers across the country, all of whom are working to understand and treat “mystery illnesses.”

How are genetic immune diseases treated?

Once we know the cause of your child’s symptoms, we can offer unique treatments that are precise and personalized for each patient. Treatment options include:

  • Using existing drugs to target the disease on a biological level.
  • Stem cell transplantation to replace your child’s defective immune system with a healthy one.
  • Gene therapy to add a normal gene where it was missing or to fix a mutated gene. This approach is currently available for a few primary immune deficiencies, but we are working to find gene therapies for new immune diseases.

We are working to understand why gene mutations cause immune cells or organs to act incorrectly, which is essential to developing targeted treatments that use gene therapy to fix the root cause of specific immune problems.

Testing a safer approach to stem cell transplantation

For some patients with immune diseases, stem cell transplantation is a chance at a cure. Stanford's Judith Shizuru, MD, and her team are hoping to make stem cell transplantation safer by eliminating the need for toxic chemotherapy before transplant. They are currently testing this approach in a clinical trial for patients with severe combined immunodeficiency (SCID).

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