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
healthyX 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
dotsunder the skin (these are called petechiae)
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
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.
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.
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.⌖ diseases treatments syndromes disorders wiskott-aldrich-syndrome aldrich-syndrome health