Wiskott-Aldrich syndrome (eczema-thrombocytopenia-immunodeficiency syndrome)
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Pathology
Genetics
- X-linked recessive
- associated with defects in WASP gene
- other implicated genes
Clinical manifestations
- immunodeficiency, recurrent infections
- eczema
- bloody diarrhea
- death usually occurs before age 10
Laboratory
Management
- platelet transfusions for active bleeding as needed
- epsilon-aminocaproic acid for active bleeding as needed[1]
More general terms
References
- ↑ 1.0 1.1 Medical Knowledge Self Assessment Program (MKSAP) 17, 18, American College of Physicians, Philadelphia 2015, 2018.
- ↑ Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 78:635-44 1994 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8069912