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Wiskott-Aldrich Syndrome

Wiskott-Aldrich Syndrome

Overview

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 males diagnosed with Wiskott-Aldrich syndrome. In the United States, this equals less than 5,000 people. This condition is rare but extremely unlikely among females.

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.

Symptoms

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. Males have one X and one Y sex chromosome, and females have two X chromosomes. The condition affects males 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.


Diagnosis

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.

Treatment

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.

Type of Doctor Department : Pediatric Hematologist/Oncologist or a Pediatric Clinical Immunologist

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