Nonoyama S, Ochs H D
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.
Curr Opin Immunol. 1998 Aug;10(4):407-12. doi: 10.1016/s0952-7915(98)80113-1.
Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. The Wiskott-Aldrich syndrome protein and the gene that encodes it have been identified by positional cloning and the protein has been shown to contain a pleckstrin-homology domain, a GTPase-binding domain, a proline-rich region and a verprolin/cofilin homology domain. Subsequent studies suggest that the protein is involved in signal transduction and the regulation of the cytoskeleton.
