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Wiskott-Aldrich syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome is an inherited immune deficiency disorder primarily affecting males, characterized by a triad of eczema, low platelet counts, and increased susceptibility to infections and autoimmune conditions.

Overview

Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema, and a reduced ability to form blood clots. This condition primarily affects males.

Symptoms

Individuals typically exhibit microthrombocytopenia, a decrease in the number and size of platelets, from birth. This leads to:

  • Easy bruising
  • Bloody diarrhea
  • Prolonged bleeding following nose bleeds or minor trauma
  • Purpura (small areas of bleeding under the skin)
  • Petechiae (tiny red spots)

Immune system dysfunction leads to an increased risk of infections from bacteria, viruses, and fungi. Affected individuals are also at higher risk for autoimmune disorders—such as rheumatoid arthritis, vasculitis, or hemolytic anemia—and cancers of the immune system, such as lymphoma.

Causes

The syndrome is caused by mutations in the WAS gene, which provides instructions for making the WASP protein. This protein is found in blood cells and relays signals from the cell surface to the actin cytoskeleton, the network of fibers that provides structural support. WASP signaling is essential for cell movement, adhesion, and the formation of immune synapses in white blood cells.

A lack of functional WASP disrupts the actin cytoskeleton, impairing the ability of white blood cells to respond to foreign invaders and causing platelets to be smaller and prone to early destruction.

Inheritance

This condition is inherited in an X-linked pattern. Because males have only one X chromosome, a mutation in their single copy of the WAS gene causes the condition. Females, who have two X chromosomes, may have less severe features or no symptoms at all. Fathers cannot pass X-linked traits to their sons.

Frequently Asked Questions

The chronic immune dysfunction and persistent inflammation associated with Wiskott-Aldrich syndrome significantly increase the risk of developing malignancies, particularly lymphomas and leukemias. The most common cancers are non-Hodgkin lymphoma and T-cell acute lymphoblastic leukemia. This elevated risk is thought to be due to the body's constant struggle to fight off infections and the resulting dysregulation of immune cell growth. Because of this high risk, patients require rigorous, long-term surveillance with regular blood counts and physical examinations to detect any signs of cancer early, allowing for timely intervention.
Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment for Wiskott-Aldrich syndrome. It involves replacing the patient's defective bone marrow with healthy stem cells from a matched donor, which restores normal immune function and platelet production. The success of HSCT is highest when performed early in life, ideally before the age of 2, and before the patient has experienced severe infections or complications. While the procedure carries risks such as graft-versus-host disease, it dramatically improves long-term survival and quality of life by correcting the underlying genetic defect.
Females who carry a mutation in the WAS gene are usually asymptomatic or have very mild symptoms because they have a second, normal copy of the gene on their other X chromosome. However, due to a process called X-inactivation, some carrier females may experience mild thrombocytopenia (low platelet count) or mild immune deficiencies. While most carriers do not require aggressive treatment, they should be monitored for platelet counts and immune function, especially if they present with unexplained bruising or recurrent infections. Genetic counseling is important for carrier females to understand the 50 percent risk of passing the mutation to their sons, who will be affected, and their daughters, who will be carriers.
The hallmark early sign is the presence of very small platelets (microthrombocytopenia) alongside easy bruising and petechiae (tiny red spots on the skin) shortly after birth. Unlike other bleeding disorders, Wiskott-Aldrich syndrome is also characterized by the development of eczema, which often appears in the first few months of life. A key diagnostic clue is that the bleeding is not due to a lack of clotting factors but rather due to the abnormal size and function of platelets. If an infant presents with this triad of eczema, bleeding tendencies, and subsequent recurrent infections, clinicians should strongly suspect Wiskott-Aldrich syndrome and order specific genetic testing for the WAS gene.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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