Wiskott-Aldrich Syndrome
- PMID: 30969660
- Bookshelf ID: NBK539838
Wiskott-Aldrich Syndrome
Excerpt
Wiskott-Aldrich syndrome is a rare X-linked disorder with a characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding Wiskott-Aldrich syndrome protein (WASp) affecting the immune system and inducing a state of immunodeficiency. The disease follows a broad spectrum depending on gene mutations ranging from severe phenotype (classic WAS) to milder ones (X-linked thrombocytopenia (XLT) and X-linked neutropenia).
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References
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