What is the Wiskott-Aldrich Syndrome?

What is Wiskott-Aldrich Syndrome? Genetic Insights & Diagnosis

Wiskott-Aldrich syndrome is a rare genetic condition that affects the immune system and blood cells. It can cause symptoms like frequent infections, easy bruising or bleeding, and skin problems such as eczema. These symptoms usually appear in early childhood and may become more serious over time if not properly managed.

While the condition can be challenging, early diagnosis and the right treatment can help improve a child’s health and quality of life. In some cases, a stem cell transplant may offer a complete cure.

Keep reading to learn what causes Wiskott-Aldrich syndrome, how it’s diagnosed and treated, and what steps can help manage the condition effectively.

What is Wiskott-Aldrich Syndrome?

Wiskott-Aldrich syndrome (WAS) is a rare inherited disease that affects the immune system and blood cells. Children with this condition may have:

• Eczema (dry, itchy skin)
• Weak immune system (more prone to infections)
• Bleeding problems (easy bruising or bleeding)

This condition can lead to serious health issues and may shorten a person's life. However, treatments are available to help manage symptoms and lower the risks.

What is a Wiskott-Aldrich Syndrome-Related Disorder?

A WAS-related disorder refers to health problems caused by changes in the WAS gene, which affects how the immune system works. One example of a related condition is X-linked thrombocytopenia, which also causes issues with blood clotting.

Sometimes, doctors may find congenital neutropenia (a condition that causes low levels of a type of white blood cell) after serious infections. This is due to a different genetic issue, not related to the WAS gene.

What are the symptoms of Wiskott-Aldrich syndrome?

The three main signs of WAS include:

1. Eczema: Skin becomes dry, itchy, and inflamed.
2. Immune system problems: The body can’t fight infections properly. This may lead to frequent illnesses like:
   
   • Common infections
   • Autoimmune diseases (e.g., arthritis)
   • Blood disorders (e.g., anaemia)
   • Certain cancers (e.g., leukaemia or lymphoma)
3. Bleeding issues: The blood doesn’t clot well due to small and low numbers of platelets. This can cause:
   
   • Easy bruising
   • Nosebleeds
   • Blood in stool
   • Skin spots (tiny red or purple dots)

In babies, signs of WAS may include:

• Eczema
• Infections that don’t go away easily
• Thrush (yeast infection in the mouth)
• Pneumonia (lung infection)

In some cases, people with a different form of the condition (gain-of-function WAS) may have:

• Serious bacterial infections
• Bone marrow disorders like myelodysplastic syndrome

What Causes Wiskott-Aldrich Syndrome?

• Wiskott-Aldrich syndrome (WAS) is caused by a mutation in the WAS gene, which is located on the X chromosome.
• The WAS gene produces a special protein found in all blood cells.
• This protein helps blood cells stick to other cells and tissues—a process called adhesion.
• Adhesion is essential for the immune system to fight off infections from bacteria and viruses.
• When the WAS gene is faulty, blood cells can't stick properly, weakening the immune system.
• This leads to symptoms of WAS, such as frequent infections, eczema, and bleeding issues.
• A related condition, called congenital neutropenia, is caused by a different gene mutation.
• In congenital neutropenia, white blood cells (neutrophils and monocytes) fail to move properly, so the immune system can’t release them to fight infections.

Can You Inherit Wiskott-Aldrich Syndrome?

Yes, Wiskott-Aldrich syndrome can be inherited. It follows an X-linked recessive pattern, meaning the gene change is passed down on the X chromosome.

• Males (who have one X and one Y chromosome) are usually affected because they only have one X chromosome.
• Females (with two X chromosomes) are usually carriers and don’t have symptoms, though in rare cases, they might show mildto moderate symptoms.

Even though it can run in families, over 30% of cases happen without any family history. These are called de novo mutations, which means the gene change happened randomly during conception.

How is Wiskott-Aldrich Syndrome Diagnosed?

Doctors usually find Wiskott-Aldrich syndrome (WAS) in babies or young children. The first signs may include:

• Bloody diarrhoea
• Easy bruising or unusual bleeding

To confirm the diagnosis, doctors will do a few tests:

• Complete blood count (CBC): checks the number and size of blood cells
• Genetic testing: looks for changes in the WAS gene
• Blood smear: examines blood cells under a microscope

If the condition isn’t caught in infancy, more signs may appear as the child grows. If your child gets sick often or doesn’t respond well to vaccines, more tests may be needed.

Doctors may also check:

• If the child’s body makes antibodies after vaccines
• The health of white blood cells, especially T-cells and immunoglobulins, which help fight infection

How is Wiskott-Aldrich Syndrome Treated?

Treatment focuses on managing symptoms and preventing serious illness. Options include:

• Antibiotics or antivirals to treat or prevent infections
• Antibody infusions (immunoglobulin therapy) to support the immune system
• Platelet transfusions to control bleeding
• Creams and moisturisers to relieve eczema

For severe cases, stronger treatments may be needed:

• Stem cell transplant: replaces damaged immune cells with healthy ones
• Gene therapy: an experimental treatment to fix the gene problem

Your child’s doctor will help choose the best treatment plan to improve their health and quality of life.

Is There a Cure for Wiskott-Aldrich Syndrome?

Yes, a stem cell transplant (also called a bone marrow transplant) can cure Wiskott-Aldrich syndrome. This treatment replaces the faulty stem cells that make abnormal blood cells with healthy stem cells. After the transplant, the new cells can make normal blood and immune cells, which helps the body work properly. While SCT is the primary curative option, its success is not guaranteed. Outcomes depend on factors like donor match, age at transplant, pre-existing organ damage, and infection status. It carries significant risks, including graft-versus-host disease (GVHD), transplant rejection, and infection.

Can Wiskott-Aldrich Syndrome Be Prevented?

No, Wiskott-Aldrich syndrome can’t be prevented because it’s inherited. If you’re planning to have children and are concerned about genetic conditions, genetic testing and counselling can help you understand your risks and options.

Wiskott-Aldrich syndrome is a serious but manageable condition when diagnosed early and treated properly. With the right medical care, many of its complications can be controlled. Regular checkups, timely treatments, and support from specialists can make a big difference in improving quality of life.

Also Read:

→ What is Human Deafness Dystonia Syndrome

→ What is Bubble Boy Syndrome

→ What is Long QT Syndrome

→ What is the Liddle-like Syndrome

→ What is Hyperkalemic Periodic Paralysis Syndrome