Wiskott-Aldrich syndrome
INTRODUCTION
Wiskott-Aldrich syndrome is an X-linked disorder caused by mutations in the gene located on short arm of the X-chromosome at Xp 11.22-23 positionthat encodes the Wiskott-Aldrich syndrome protein (WASP). The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema. However, there is a ...WAS gene mutations, ranging from a severe phenotype (classic form) of WAS associated with bacterial and viral infections, severe eczema, autoimmunity, and/or malignancy, to a milder form characterized by thrombocytopenia and less severe or sometimes absent infections and eczema, referred to as X-linked thrombocytopenia (XLT). A separate phenotypic entity associated with particular WAS gene variants is X-linked neutropenia (XLN).