Wiskott Aldrich Syndrome

Wiskott-Aldrich syndrome is a rare genetic immunodeficiency that keeps a child's immune system from functioning properly. It also makes it difficult for a child's bone marrow to produce platelets, making a child prone to bleeding. It occurs mostly in males.

Causes of Wiskott Aldrich Syndrome #

• Wiskott-Aldrich syndrome develops as the result of a defect in a gene located on the X chromosome.

• Because females have two X chromosomes, but males have only one, women who carry a defect of the Wiskott-Aldrich syndrome gene in one of their X chromosomes do not develop symptoms of the disease (because they have a healthy X chromosome), but can pass the defective gene on to their male children.

• As a result, Wiskott-Aldrich syndrome almost always affects boys only.

Symptoms of Wiskott Aldrich Syndrome #

• Frequent and easy bleeding that can occur from the nose, the mouth and gums

• Frequent and easy bruising

• A small red rash consisting of dots under the skin (these are called petechiae)

• Chronic infections

• Eczema (atopic dermatitis)

• Autoimmunity (anemia, arthritis, inflammatory bowel disease, nephritis, vasculitis)

Diagnosis of Wiskott Aldrich Syndrome #

After gathering a complete medical history, your child’s doctor may order one or more of the following tests to help diagnosis Wiskott-Aldrich syndrome:

• A test that measures the amount of platelets(clotting agents) in his blood

• A genetic test that reveals presence of a mutation in the Wiskott-Aldrich syndrome gene

• A blood test that demonstrates absence of the Wiskott-Aldrich syndrome protein in the white blood cells

• Other blood tests as needed

Treatment of Wiskott Aldrich Syndrome #

Childhood vaccinations #

• Some of the standard childhood vaccinations are safe for children with Wiskott-Aldrich syndrome and some are not.

• Because their B-cells of children with Wiskott-Aldrich syndrome do not function properly, their bodies cannot produce the normal antibodies that fight off viruses.

• Since some vaccines are actually live viruses, they pose too high a risk of infection to be safe for a child with a weakened immune system.

• However, other types of vaccines that are killed vaccines (against pneumococcus, hemophilus and meningococcus) are safe and may help prevent severe bacterial infections in patients with Wiskott-Aldrich syndrome.

Antibody infusions #

• Because your child’s B cells may not produce antibodies against infection, he may need regular infusions (administration through a vein) of the antibody immunoglobin (also known as immune globin or gammaglobin).

• Your child’s clinician can advise you about the exact steps you should be taking to help reduce the risk of infection.

Guarding against bleeding/bruising #

Some measures for lowering the risk of uncontrolled bleeding and bruising can include:

• Avoiding activities that pose significant risks of trauma (such as contact sports)

• Wearing a helmet during physical activities that may pose a risk of head trauma (such as biking or skating)

• Taking corticosteroids (drugs that help prevent allergic and inflammatory responses) (this is usually done only in an acute situation)

• Receiving infusions of the antibody immunoglobin

• Receiving platelet transfusions (this is usually only prescribed in an emergency situation)

• Removing the spleen (this is usually only prescribed in an emergency situation)

Stem cell/bone marrow transplants #

• A stem cell transplant (also known as a bone marrow transplant) is the mainstay of treatment for Wiskott-Aldrich syndrome.

• This is the only available treatment option that has a chance of providing a permanent cure.

• Stem cells are a versatile type of cell found in bone marrow.

• These cells have a unique and powerful ability - They can develop into several different types of specialized cells.

Gene therapy #

Stem cell transplants are not always perfect treatments for Wiskott-Aldrich syndrome. For example, children may have improvement but not complete recovery of the platelets to a normal level or may have partial but not complete recovery of the immune system.