Wiskott-Aldrich syndrome is a rare genetic disorder affecting the male immune system. The classic signs include recurring infections, eczema, and decreased ability for blood to clot.

The genetic mutation typically passes from the birthing person, who carries the mutated gene on an X chromosome.

The condition only affects males and causes mild to severe symptoms depending on the individual.

Read on for a comprehensive overview of the symptoms, causes, and treatment of Wiskott-Aldrich syndrome.

A note about sex and gender

Sex and gender exist on spectrums. This article will use the terms “male,” “female,” or both to refer to sex assigned at birth. Click here to learn more.

A newborn baby that may have Wiskott Aldrich syndrome.Share on Pinterest
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According to a 2023 overview of current research, symptoms of Wiskott-Aldrich syndrome typically appear within the first few days of life.

The most common initial symptom is prolonged bleeding from the umbilical site or after circumcision. The infant may also have tiny pin-point red, brown, or purple spots on the skin, which health professionals call petechiae.

About 50% of infants with Wiskott-Aldrich syndrome develop eczema within the first year.

Due to the compromised immune system, infants with Wiskott-Aldrich syndrome are highly susceptible to infections. They may frequently get ear infections, colds, and coughs.

More severe symptoms can include the development of autoimmune conditions, leukemia, and lymphoma.

Wiskott-Aldrich syndrome occurs when there is a mutation in the WAS gene. This gene is responsible for providing instructions on how to make the WASp protein.

WASp plays a critical role in the function of several types of blood cells, including T cells and B cells. These cells are essential for a healthy immune system and proper blood clotting.

With the mutation of the WAS gene, the protein is either absent or dysfunctional, leading to the classic symptoms.

Wiskott-Aldrich syndrome is an X-linked recessive disorder, meaning the gene responsible for the condition is on the X chromosome.

Because the WAS gene is located on the X chromosome, males who inherit a mutated copy of the WAS gene develop the disorder.

Females have two X chromosomes. Those who inherit a mutated copy and a nonmutated copy are carriers of the disorder without having symptoms. They then have a 50% chance of passing the mutated gene onto a male child, who would then develop Wiskott-Aldrich syndrome.

Only about 1 in every 100,000 births have this disorder.

Diagnosing Wiskott-Aldrich typically involves a combination of medical history, physical symptoms, and laboratory tests.

A medical professional may suspect Wiskott-Aldrich in an infant who has the classic symptoms.

Blood tests can reveal low platelet count and small platelet size. Abnormalities in immune cell numbers may also be present.

Genetic testing can confirm the diagnosis by identifying mutations in the WAS gene.

Early diagnosis is important for initiating appropriate treatment and management strategies.

There are several treatment options for Wiskott-Aldrich syndrome.

Hematopoietic stem cell transplantation

Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment for Wiskott-Aldrich syndrome.

The procedure involves replacing the individual’s bone marrow with healthy stem cells from a compatible donor. The donor is typically a sibling or unrelated donor.

However, HSCT is a complicated procedure with significant risks and complications. The success rate depends on several factors and is not a guarantee.

Other therapies

Several therapies can help manage the symptoms and complications of Wiskott-Aldrich syndrome.

  • Intravenous immunoglobulin (IVIG): Regular IVIG infusions can boost the individual’s immune system by providing antibodies to fight infections.
  • Antibiotics, antivirals, and antifungals: Prompt and aggressive treatment for infections is essential for managing infections in individuals with WAS.
  • Platelet transfusions: These can help control bleeding episodes and prevent serious complications.
  • Eczema management: Topical steroids can help relieve itching and inflammation with links to eczema.
  • Gene therapy: This is an emerging treatment approach that involves replacing the faulty WAS gene with a healthy copy. While still experimental, gene therapy holds promise as a potential cure in the future.

Parents and caregivers of a child with Wiskott-Aldrich syndrome need to take extra precautions against infections due to the compromised immune system.

As the child grows, they will also need to learn how to take precautions to protect themselves.

Here are some general recommendations:

  • Hand hygiene: Frequent handwashing with soap and water or using an alcohol-based hand sanitizer is essential, especially before eating, after using the restroom, and after being in public places.
  • Infection prevention: It is crucial to avoid close contact with people who are sick, especially those with respiratory infections.
  • Food safety: Proper food handling and preparation are essential to prevent foodborne illnesses. This includes washing fruits and vegetables thoroughly, cooking meat to the recommended temperature, and avoiding unpasteurized dairy products.
  • Environmental hygiene: Maintaining a clean living environment is important. Regularly disinfecting frequently touched surfaces, such as doorknobs, countertops, and toys, can help reduce the spread of germs.
  • Vaccinations: While healthcare professionals may suggest avoiding live virus vaccines due to the compromised immune system, other vaccinations may help prevent illness. It is best to get individualized recommendations for an appropriate vaccination schedule.

Advancements in treatment and immune therapies are improving the outlook for individuals with Wiskott-Aldrich syndrome.

Genetic therapy is currently under research, but several small studies demonstrate positive results.

If a person has a donor for HSCT and the procedure is successful, they may go on to live a typical lifespan.

For individuals who are not eligible for HSCT or if the procedure is unsuccessful, supportive care and symptom management are crucial.

Often, the lifespan of those with Wiskott-Aldrich syndrome is shorter than the typical lifespan due to the complications of bleeding and infection.

Wiskott-Aldrich syndrome is a rare, X-chromosome-linked genetic disorder that affects males. Characteristic symptoms include immune deficiency, eczema, and a low platelet count.

These symptoms arise from mutations in the WAS gene, which provides instructions for producing a protein crucial for the proper function of immune cells and platelets.

The severity of symptoms can vary, and early diagnosis is vital for timely intervention and improved outcomes.

Hematopoietic stem cell transplantation is the only treatment that offers the possibility of a complete recovery. However, the procedure is risky and requires a matching donor.

Ongoing research, particularly in gene therapy, offers hope for future treatments and potential cures for Wiskott-Aldrich syndrome.