Wiskott Aldrich Syndrome (WAS)

What is Wiskott Aldrich syndrome (WAS)?

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

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

At birth, the only symptom of WAS in many patients is a low platelet count, although patients can develop eczema during the first year of life. Patients 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 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 patients are young, since the results of transplantation are poorer in older patients. 

Patients receive chemotherapy before stem cell transplantation to allow the donor stem cells to engraft. Patients are usually discharged from the hospital 30–40 days after transplantation when they have developed adequate blood and immune function. 

Why choose Stanford 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 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.