Wiskott Aldrich Syndrome

What is Wiskott Aldrich syndrome?

Wiskott Aldrich syndrome (WAS) is a genetic disease that only affects males and is characterized by immune deficiency, eczema, and a low platelet count (thrombocytopenia).

What are the symptoms of WAS, and how is it diagnosed?

If your child has WAS, he or she may have a low platelet count at birth and may develop eczema during the first year of life. Your child may also have recurrent infections, especially with bacteria and viruses. WAS is caused by a defect in the WAS gene, and genetic analysis is used to confirm the clinical diagnosis. 

How do we treat WAS at Stanford Medicine Children’s Health?

The only curative therapy for WAS is stem cell transplantation from a healthy donor, preferably a matched donor like a sibling.

If this isn’t an option, stem cell transplantation from a mismatched family donor or unrelated donor are the next-best choices. Because using a mismatched donor increases the risk of developing graft-versus-host disease (GVHD), our doctors deplete T cells that cause GVHD before transplantation, reducing the risk of GVHD and helping every patient find a suitable donor. Transplantation with unrelated donors should be done when your child is young, since the results of transplantation are poorer in older patients. 

Your child will receive chemotherapy before stem cell transplantation to allow the donor stem cells to engraft. Your child will likely be discharged from the hospital 30–40 days after transplantation when he or she has developed adequate blood and immune function.

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

Our doctors are at the forefront of efforts to make stem cell transplants safer and accessible to every patient with WAS. Stanford’s Alice Bertaina, MD, PhD, is an internationally renowned expert in reducing the risk of GVHD in mismatched stem cell transplantation by depleting T cells (the immune system’s fighter cells) from the graft. This means that even patients who don’t have a fully matched donor can now safely undergo stem cell transplantation. Dr. Bertaina has performed more than 400 transplants with this technique.