Wiskott-Aldrich Syndrome

What is Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome is a rare genetic condition that affects the function of your child’s immune system and cells. It causes symptoms that include:

• Eczema.
• Immune deficiency.
• Bleeding and bruising.

This condition can lead to life-threatening complications and a short life expectancy. But treatment options help prevent these risks.

How common is Wiskott-Aldrich syndrome?

There are an estimated 3 per million people assigned male at birth (AMAB) diagnosed with Wiskott-Aldrich syndrome. In the United States, this equals less than 5,000 people. This condition is rare but extremely unlikely among people assigned female at birth (AFAB).

What is a WAS-related disorder?

Your healthcare provider may refer to Wiskott-Aldrich syndrome as a WAS-related disorder. A WAS-related disorder affects the immune system and results from a genetic change of the WAS gene. X-linked thrombocytopenia is WAS-related.

A healthcare provider may identify congenital neutropenia after serious bacterial infections. Congenital neutropenia is associated with another genetic change, not WAS.

What are the symptoms of Wiskott-Aldrich syndrome?

There are three main symptoms of Wiskott-Aldrich syndrome:

• Eczema: Eczema is a skin condition that causes itchy, dry patches of skin.
• Immune deficiency: White blood cells that help keep your body healthy don’t work as they should or don’t function at all. As a result, your immune system can attack itself and make you ill. This can cause frequent infections, rheumatoid arthritis, vasculitis, anemia, leukemia or lymphoma.
• Problems with bleeding (microthrombocytopenia): Your blood isn’t able to clot as it should, or stop excessive bleeding. This happens because you have fewer and smaller blood cells that are responsible for clotting (platelets). It can cause bruising, nosebleeds, bloody diarrhea, bleeding under the surface of your skin (purpura) and a skin rash with tiny red dots (petechiae).

Infants with loss of function Wiskott-Aldrich syndrome may present with:

• Eczema.
• Immune deficiency.
• Severe thrush.
• Pneumonia.

There may be severe bacterial infections or myelodysplastic syndrome for gain-of-function WAS (congenital neutropenia).

What causes Wiskott-Aldrich syndrome?

A genetic change (mutation) of the WAS gene causes Wiskott-Aldrich syndrome. WAS is located on the short arm of your X chromosome. This gene is responsible for producing the Wiskott-Aldrich syndrome protein. This protein exists in all of your blood cells.

The Wiskott-Aldrich syndrome protein tells your cells to attach to other cells and tissues in a process called adhesion. Adhesion helps your immune system defeat invaders like bacteria or viruses, which can make you sick.

If you have a genetic mutation on the WAS gene, your blood cells aren’t able to attach to other cells and tissues. This can affect how your immune system defends itself, which results in the symptoms of Wiskott-Aldrich syndrome.

In congenital neutropenia, the genetic mutation causes neutrophils and monocytes to stall in their movement. Your immune system then doesn’t release them to fight infection.

Can you inherit Wiskott-Aldrich syndrome?

Yes, you can inherit Wiskott-Aldrich syndrome. This condition has an X-linked recessive pattern of inheritance where you get the genetic change from both of your biological parents.

You inherit one sex chromosome from each of your biological parents. People AMAB have one X and one Y sex chromosome and people AFAB have two X chromosomes. The condition affects people because the mutation affects the function of their only X chromosome.

The condition does have a pattern of inheritance in biological families, but over 30% of all cases occur without a presence in your biological family history (de novo). These cases are the result of a new genetic mutation that happens during conception.

How is Wiskott-Aldrich syndrome diagnosed?

A healthcare provider usually diagnoses Wiskott-Aldrich syndrome during infancy or childhood after a physical exam and testing. Early signs of the condition are bloody diarrhea, unusual bleeding or bruising. A healthcare provider will offer tests to confirm a diagnosis that includes:

• A complete blood count (CBC).
• A genetic blood test.
• Peripheral blood smear.

The condition will become more apparent during childhood if your child didn’t receive a diagnosis during infancy.

Additional testing might be necessary during childhood if they show signs of a compromised immune system, like getting frequent infections. This happens because their body isn’t able to process bacteria, viruses or certain types of vaccines as expected.

A provider may offer a blood test to detect whether your child’s body can produce antibodies after a vaccine. Antibodies trigger an immune response that helps prevent a severe illness. Additionally, they’ll perform another blood test that evaluates your child’s white blood cells, including their T-cells and immunoglobulins, which help produce antibodies.

How is Wiskott-Aldrich syndrome treated?

Treatment for Wiskott-Aldrich syndrome could include:

• Antibiotics or antiviral medications to treat infections.
• Antibody (immunoglobulin) infusions to replace missing antibodies.
• Blood-platelet transfusions for bleeding complications.
• Topical medications and over-the-counter (OTC) moisturizers to treat eczema.

An illness or an infection can have a severe or life-threatening impact on your child’s health. Treatment to preserve your child’s life may include:

• Stem cell transplant.
• Gene therapy (investigational).

Your child’s healthcare provider will discuss treatment options to give your child the best outcome and improve their quality of life.

How can I prevent Wiskott-Aldrich syndrome?

You can’t prevent Wiskott-Aldrich syndrome because it’s genetic. If you plan on having biological children and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about genetic testing.

What can I expect if my child has Wiskott-Aldrich syndrome?

If your child has Wiskott-Aldrich syndrome, their healthcare provider will offer a treatment plan that prevents life-threatening complications caused by their malfunctioning immune system. They may recommend genetic counseling after a diagnosis. This can help you and your family learn more about Wiskott-Aldrich syndrome and the treatment options available.

Your child may have health complications from common illnesses throughout childhood like chickenpox. Since their immune system isn’t able to protect their body in the same way as others their own age, your child may need quick treatment from a healthcare provider. Treating illnesses and infections quickly can lead to a more positive outcome.

Their provider may not recommend giving your child live virus vaccines like the flu shot. This is because a live strain of the virus may cause an illness in your child. Your child may receive some vaccines, but they may be less effective. If your child does get sick from a virus, early treatment with antiviral medications is usually positive. Complications from common illnesses may occur.

Since your child is at a higher risk of developing certain types of cancers, they’ll need regular cancer screenings for leukemia or lymphoma throughout their life.

Is there a cure for Wiskott-Aldrich syndrome?

A stem cell transplant (bone marrow transplant) can cure Wiskott-Aldrich syndrome. These types of transplants replace stem cells that make blood cells in your body. Since Wiskott-Aldrich syndrome produces abnormally functioning blood cells, a stem cell transplant can replace those cells with healthy ones that function as expected.

Is Wiskott-Aldrich syndrome fatal?

Wiskott-Aldrich syndrome can be fatal. Children who don’t undergo stem cell transplant may have a life expectancy of 15 years. Symptoms from infections, bleeding in your child’s brain, severe infection or cancer may be life-threatening and can lead to early death.

Medical advancements and treatment options are available to improve your child’s overall life expectancy.

When should I see my child’s healthcare provider?

If your child diagnosed with Wiskott-Aldrich syndrome is sick, contact their healthcare provider. Your child may get frequent infections since their immune system isn’t fully functional. Their healthcare provider can offer treatment to help their illness or infection go away, or to prevent any life-threatening complications that could occur.

Visit your child’s provider if they have:

• Bloody diarrhea.
• Frequent nosebleeds.
• Large areas of bruising.
• Changes to their skin.
• Recurrent infections (such as severe chickenpox or thrush, bacterial infections).

What questions should I ask my doctor?

You may want to ask your provider:

• What’s my child’s life expectancy?
• What products can I use to treat my child’s eczema?
• Are there side effects to the treatment you recommend?
• Is my child a candidate for a stem cell transplant?

What is the difference between Wiskott-Aldrich syndrome and ataxia-telangiectasia?

Wiskott-Aldrich syndrome and ataxia-telangiectasia are genetic conditions that affect the function of your immune system. Ataxia-telangiectasia is the result of a gene change to the ATM gene. It affects your movement and coordination. It also causes zig-zag blood vessels to appear on the skin.

A note from Cleveland Clinic

It can be overwhelming to learn that your child has a rare genetic condition that will affect them throughout their entire life. Their healthcare provider will help you learn more about their condition and how you can help them at home. Your child may be sick more often because their immune system doesn’t work as it should. While you take care of your child, make sure you take care of yourself. Many people and families find comfort and support in speaking with a mental health professional. Thanks to advancements in treatment options, children diagnosed with this condition can live full lives.