Wiskott-Aldrich Syndrome
Overview |
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- Wiskott-Aldrich Syndrome is caused by an inactivating mutation in the 'Wiskott-Aldrich Syndrome Protein' gene. How this mutation is connected to the diverse clinical consequences is not currently well-understood.
Clinical Consequences |
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- Eczema
- Thrombocytopenia which usually leads to a variety of bleeding disorders
- Infection Susceptibility: Recurrent infections, especially to encapsulated bacteria as Humoral Immunity cannot generate antibodies to polysaccharide antigens
- In most cases, patients do not survive childhood
Genetics |
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- X-linked recessive