DISEASE SCANNER
Global Incurable Diseases Tracker
Wiskott-Aldrich Syndrome
An X-linked immunodeficiency characterized by thrombocytopenia with small platelets, eczema, and immunodeficiency. Caused by WAS gene mutations affecting hematopoietic cell signaling. Risk of autoimmune disease and lymphoma.
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15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Improved with transplant. Without treatment: death by age 10-15 from infection, bleeding, or malignancy. Hematopoietic stem cell transplant curative: 80-90% survival with matched sibling donor, 70-80% with matched unrelated donor. Gene therapy trials promising. Prophylactic antibiotics and IVIG reduce infections. Splenectomy contraindicated due to infection risk. Eczema manageable with topical therapy. Autoimmune complications affect 40%. Lymphoma risk 20-30%. Early transplant before complications improves outcomes.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Hematopoietic stem cell transplant curative. Gene therapy trials showing promise. Supportive care with IVIG, antibiotics, platelet transfusions. Splenectomy may reduce bleeding but increases infection risk.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.