Immunodysregulation Polyendocrinopathy Enteropathy X-Linked (IPEX) Syndrome

What is IPEX syndrome?

IPEX syndrome is a genetic disease of immune dysregulation that causes diarrhea, diabetes, and eczema in young patients. It is extremely rare, affecting 1 in every 1.6 million people.

If your child has IPEX syndrome, he or she has abnormalities in the FOXP3 gene, which controls the production of regulatory T cells, a type of immune cell. Without a normal FOXP3 gene, other immune cells attack the body’s healthy tissues. The gene is carried on the X chromosome, so most patients are male, because males only have one X chromosome.

Why choose Stanford Medicine Children’s Health for IPEX treatment?

Stanford’s Rosa Bacchetta, MD, is a world-renowned expert in IPEX. She has been performing stem cell transplants in patients with IPEX since 2003, shortly after the FOXP3 gene was identified. Her laboratory is working on two different gene therapy approaches to treat IPEX. In one method, her team will take a patient’s white blood cells and add a normal copy of the FOXP3 gene to the cells, transforming them into regulatory T cells to help restore normal immune function. We are currently testing this approach in a clinical trial only available at Stanford.

Dr. Bacchetta’s team is also testing whether they can use CRISPR-Cas9 gene-editing technology to insert a functional FOXP3 gene into IPEX patients’ stem cells. Patients would receive a transplant with their own corrected stem cells. If this method works, it will be a permanent cure.