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Start free with EleplanWiskott-Aldrich syndrome
ORPHA:906Disease
Also called Eczema-thrombocytopenia-immunodeficiency syndrome · WAS
What it is
A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
15Common30–79%
14Sometimes5–29%
28- Abnormality of the menstrual cycle
- Abnormal platelet function
- Acute leukemia
- Arthritis
- Blepharitis
- Chest pain
- Chronic leukemia
- Conjunctivitis
and 20 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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