About Wiskott-Aldrich Syndrome
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency caused by mutations in the WASp gene encoding a protein critical for immune cell cytoskeleton function and actin polymerization. Pathophysiology involves impaired T-cell and B-cell function, defective regulatory T cell development, and abnormal immune response regulation. The classic triad includes microthrombocytopenia (extremely small platelets with low numbers, 5,000-30,000/µL), eczema with severe pruritus, and recurrent infections from bacterial, viral, and opportunistic organisms.
Patients develop progressive T-cell immunodeficiency with diminished T-cell numbers and function, combined B-cell dysfunction, and impaired mucosal immunity. Progressive features include autoimmune manifestations (autoimmune hemolytic anemia, vasculitis, arthritis, inflammatory bowel disease) occurring in approximately 70-80% of patients.
Most dramatically, patients have exponentially increased malignancy risk with approximately 75% developing lymphoma (especially non-Hodgkin lymphoma) or leukemia by age 26 years. Diagnosis combines clinical features, flow cytometry showing small platelet size and reduced/absent WASp protein in lymphocytes, and genetic testing identifying WASp mutations. Affected males rarely survive past age 5 without treatment.
Common Symptoms of Wiskott-Aldrich Syndrome
Recognizing the signs of Wiskott-Aldrich Syndrome early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Severe thrombocytopenia with petechiae and bleeding
- Eczema with pruritus
- Recurrent infections (bacterial, viral, fungal)
- Autoimmune manifestations
- Significantly increased malignancy risk
- Lymphopenia and abnormal T-cell function
Who Wiskott-Aldrich Syndrome Affects
Exclusively males due to X-linked inheritance affecting essentially all hemizygous males, though rare manifesting heterozygous females with extreme lyonization reported. Manifests in infancy with bleeding tendency evident from newborn period and infections developing within first months of life.
Average age of diagnosis 1-2 years. Affects all ethnic and racial groups with estimated incidence 1-4 per million males. Female carriers typically asymptomatic but can transmit disease to male offspring. No geographic variation in incidence. Not associated with familial clustering except through carrier female relatives.
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FDA-Approved Treatments for Wiskott-Aldrich Syndrome
There is currently 1 FDA-approved medication for Wiskott-Aldrich Syndrome. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Help Paying for Wiskott-Aldrich Syndrome Treatment
Charity funds and drugmaker programs for Wiskott-Aldrich Syndrome, checked at the source. Pick your insurance to see what fits.
- From a charity · The Assistance FundPrimary Immunodeficiency fundWaitlist
Pays for: Copays, coinsurance, deductibles and other health-related expenses.
The foundation says: “WAITLIST — Accepting Waitlist Patients. TAF is currently accepting requests to join the enrollment waitlist for this program. Waitlists a…”
Side Effect Explorer
Real-world side effect reports from the FDA Adverse Event Reporting System (FAERS). Includes both FDA-approved drugs and investigational therapies from active clinical trials. Click any drug to see what patients reported.
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Genetic Testing
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
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Trusted Wiskott-Aldrich Syndrome Resources
Reputable organizations and medical references for learning more about Wiskott-Aldrich Syndrome, including disease registries, foundation resources, and clinical guidelines.