X-LINKED THROMBOCYTOPENIA CAUSED BY MUTATIONS OF THE GENE WASP: A CASE DESCRIPTION

Key words: X-linked thrombocytopenia, WASP gene, Phenotypes

Wiskott-Aldrich (WAS) and X-linked thrombocytopenia (XLT) are two disorders caused by different mutations of the gene WASP. WAS is characterized by recurrent infections, eczema, thrombocytopenia with low mean platet volume (MPV) and increased susceptibility to autoimmune disease and malignancies, while in XLT the phenotype is milder: eczema, if present, is mild, and the immune functions are generally normal and no major episodes of bleeding are described. This spectrum of phenotypes associated with abnormalities of the WASP gene reflects the heterogeneity of the mutations.