Wiskott-Aldrich syndrome is a very rare genetic disorder that affects the WAS gene. Usually seen in males, it’s present from birth and characterized by a specific triad of symptoms.

Wiskott-Aldrich syndrome is a rare genetic disorder mainly seen in males. It’s caused by an abnormal WAS gene and is characterized by the symptom triad of:

  • immune system problems (immunodeficiency)
  • eczema
  • impaired blood clotting (thrombocytopenia)

Symptoms of Wiskott-Aldrich syndrome may begin at birth and can range from mild to severe. People with severe symptoms may need treatments such as immunoglobulin infusions or bone marrow transplantation. Mild disease might only require supportive treatments such as antibiotics to prevent bacterial infections and creams for eczema.

This article examines this rare disease in more detail, including its symptoms, cause, and outlook.

Wiskott-Aldrich syndrome is present from birth. Some symptoms may appear in the first days of life.

The characteristic triad of symptoms used to diagnose Wiskott-Aldrich syndrome include:

People with mild disease often show little to no signs of immunodeficiency. The severe form of the disease is also called classic Wiskott-Aldrich syndrome. People with classic Wiskott-Aldrich syndrome can have extremely compromised immune function.

Autoimmune conditions and Wiskott-Aldrich syndrome

Anywhere from 26–72% of people with Wiskott-Aldrich syndrome develop autoimmune problems where their immune system attacks healthy cells in their body.

Reported autoimmune conditions associated with Wiskott-Aldrich syndrome include:

Wiskott-Aldrich syndrome is caused by a mutation in your WAS gene that’s present from birth. This gene gives your body the instructions it needs to produce WAS proteins that play a role in many immune cell functions. More than 300 mutations that can cause problems with the production of this protein have been identified.

Your WAS gene is found on your X chromosome. Males have one X chromosome, and females have two. Because females have a backup copy of this chromosome, almost all cases of Wiskott-Aldrich syndrome occur in males. Females must have an associated mutation on both their X chromosomes to develop Wiskott-Aldrich syndrome.

Wiskott-Aldrich hasn’t been reported more often in any particular geographic location or ethnic group.

How common is Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome occurs in about 1 in 100,000 babies. It develops almost exclusively in males.

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People with mild forms of Wiskott-Aldrich syndrome may only need supportive treatments such as:

  • topical steroid creams for eczema rash
  • antibiotics to treat bacterial infections
  • taking precautions to prevent bleeding and injury
  • medications to treat bleeding episodes

People with more severe symptoms might need:

  • Immunoglobin infusions: Immunoglobulin infusion through an IV may be required for people with significant antibody deficiency to help support their immune systems.
  • Eltrombopag: Eltrombopag is an oral medication used to treat a low platelet count caused by an autoimmune reaction. It may be given to people awaiting a stem cell transplant.
  • Immunosuppressive therapy: People who develop autoimmune conditions may need immunosuppressants. A low white blood cell count caused by an autoimmune reaction may respond to rituximab.
  • Splenectomy: Some people who have serious bleeding may benefit from a splenectomy, which is the removal of your spleen. People who receive this procedure need antibiotics for the rest of their life.

Allogenic bone marrow transplant has emerged as a potentially curative treatment option. This procedure involves taking bone marrow cells that produce blood cells from a donor and infusing them into your bloodstream through an IV.

Allogenic bone marrow transplantation has traditionally been reserved for children, but it has also been performed in adults in recent years. For example, researchers in a 2023 case study reported two men in their 40s with significant Wiskott-Aldrich syndrome symptoms who were successfully treated.

Gene therapy for potentially curing Wiskott-Aldrich syndrome is under investigation. It’s already been developed for another genetic condition that causes trouble with blood clotting called hemophilia.

The outlook for people with Wiskott-Aldrich syndrome depends on the severity of their disease. People with mild disease often have a high quality of life and have a life expectancy close to that of the general population.

The outlook for people with severe disease has improved significantly in recent years due to advances in treatment.

People with severe Wiskott-Aldrich syndrome are at an increased risk of developing lymphoma and leukemia, often in childhood. The development of autoimmune disease is linked to a poorer outlook and increased risk of cancer.

People who receive an allogenic bone marrow transplant with a sibling donor have an event-free survival of more than 90%. Event-free survival is a measure of how many people survive without symptoms of the disease.

Wiskott-Aldrich syndrome is a rare genetic condition primarily affecting males that causes bleeding, a weakened immune system, and a skin rash called eczema. The severity can range from mild to severe.

People with mild Wiskott-Aldrich syndrome have comparable quality of life and lifespans as people in the general population. People with severe forms of the disease are at an increased risk of developing cancer, infections, and severe bleeding. Allogenic bone marrow transplantation has emerged as a potential curative treatment option.