The Journal of Pediatric Infectious Diseases and lmmunology Online Journal


The Journal of Pediatric Infectious Diseases and Immunology > Vol.23 No.1 contents > Abstract

Article in Japanese

Molecular pathogenesis for infectious diseases and roles of WIP in Wiskott-Aldrich syndrome


Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by Wiskott-Aldrich syndrome protein (WASP) gene mutations. WASP is predominantly expressed in hematopoietic cells and regulates the reorganization of actin cytoskeleton in response to T cell receptor stimulation. WASP is localized at the immunological synapses between T cells and antigen presenting cells. Recently, regulation of WASP functions by its binding molecules, molecular basis of immunological defects and prediction of clinical outcome in WAS patients have been revealed based on both basic and clinical research. In this article, I review recent advances for molecular pathogenesis that link to frequent infections in WAS patients. Next I report the significance of WASP-interacting protein, WIP, as a molecular chaperone for WASP. WIP plays important roles in the regulation of WASP protein stability in T cells. Protection of WASP by WIP from protein degradation explains the reason why most of WASP missense mutations in WAS patients are in WIP-binding site. Finally I discuss the possibility of autosomal type of WAS caused by WIP deficiency.

Department of Pediatrics, Tohoku University Graduate School of Medicine

Key words
Received January 1, 1970
Accepted January 1, 1970

23 (1):75─80,2011