Authors: Hans D Ochs
Publish Date: 2008/12/11
Volume: 44, Issue: 1-3, Pages: 84-
Abstract
Mutations of the Wiskott–Aldrich Syndrome Protein WASP are responsible for classic Wiskott–Aldrich Syndrome WAS Xlinked thrombocytopenia XLT and in rare instances congenital Xlinked neutropenia XLN WASP is a regulator of actin polymerization in hematopoietic cells with welldefined functional domains that are involved in cell signaling and cell locomotion immune synapse formation and apoptosis Mutations of WASP are located throughout the gene and either inhibit or disregulate normal WASP function Analysis of a large patient population demonstrates a strong phenotype–genotype correlation Classic WAS occurs when WASP is absent XLT when mutated WASP is expressed and XLN when missense mutations occur in the Cdc42binding site However because there are exceptions to this rule it is difficult to predict the longterm prognosis of a given affected boy solely based on the analysis of WASP expression
Keywords: