Some Types of PI:

Wiskott-Aldrich Syndrome (WAS)

WAS is a type of primary immunodeficiency (PI) disease that affects the immune system and causes abnormal bleeding due to a deficiency in the blood cells needed for the clotting process. It is one of more than 400 different types of PI.

WAS is caused by mutations in the gene that produces the Wiskott-Aldrich Syndrome Protein (WASp), which is located on the X chromosome. The WASp is responsible for a number of cell functions, including cell mobility and shape change. Mutated WASps can inhibit the immune cells’ ability to distribute throughout the body which can result in an impaired immune response. Because the gene defect is carried on the X chromosome (X-linked recessive), only boys can inherit WAS.

There are over 450 different types of PI, each with its own characteristics and challenges.
Need a crash course? Learn the basics of PI.

Symptoms of Wiskott-Aldrich syndrome (WAS)

Some people with WAS have all three classic symptoms: increased bleeding, recurrent infections, and skin eczema, while others experience only low platelet counts that increase the tendency to bleed. All are related to the mutation of the WAS gene.

Bleeding: A reduction in the size and number of platelets is common with WAS. Bleeding into the skin may cause bluish-red spots (called petechiae) ranging in size from small pinheads to large bruises. Boys with WAS may also experience bloody bowel movements (especially in infancy), bleeding gums, and prolonged nosebleeds. Bleeding into the brain is a particularly dangerous complication
Infections: Ear infections, sinus infections, and pneumonia are common in WAS due to a compromised immune system. More severe infections of the bloodstream may also occur, as well as meningitis or severe viral infections
Eczema: People with classic WAS frequently suffer from eczema. In infants, the eczema may resemble “cradle cap” or severe diaper rash. In older boys, eczema may be limited to the skin creases around the front of the elbow, around the wrist and neck, and behind the knee
Autoimmune symptoms: Often, “autoimmune-like” symptoms (conditions that result from the unhealthy immune system attacking the patient's own body) are common in both infants and adults with WAS
Cancer: Cancer can occur more frequently in patients with WAS. Most of these cancers, such as lymphoma or leukemia, involve the B cells

Diagnosis of Wiskott-Aldrich syndrome (WAS)

WAS can be diagnosed by studying the patient’s blood cells to determine if the WASp is expressed at normal levels, or if the existing WAS gene is mutated. Because the blood cell abnormalities of WAS are almost always present, even in the cord blood at birth, the simplest way to diagnose WAS is through a blood test to measure platelet count and determine the platelet size. WAS platelets are much smaller than normal platelets, so their presence is useful in making a diagnosis. In children over the age of 2, frequent infections and immune system problems can be used to support diagnosis.

What should I know about treatment for Wiskott-Aldrich syndrome (WAS)?

You are not alone, but no one is quite like you. It's important to learn about the various treatments for PI, and should be individualized to meet your specific needs. Your healthcare team is there to provide recommendations based on you, and your situation. Here are some tips:

Keep track of how you’re doing and share the information with your doctor on a regular basis.
Your doctor will only know how you’re doing if you tell them. If you have questions, concerns, thoughts or feelings—speak up and share!
You and your doctor both play a part in managing your health. You can take an active role by learning as much as you can and by following your doctor’s recommendations.