The Wiskott-Aldrich syndrome

Cell Mol Life Sci. 2004 Sep;61(18):2361-85. doi: 10.1007/s00018-004-4086-z.

Abstract

The Wiskott-Aldrich Syndrome (WAS) is an inherited immunodeficiency caused by a variety of mutations in the gene encoding the WAS protein (WASp). WASp is expressed in hematopoetic cells and facilitates the reorganization of the actin cytoskeleton in response to many important cell stimuli. Extensive study of WAS and more recently WASp has given great insight into the relevance of this molecule and related molecules to both basic cell biology and human immune defenses.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Blood Platelets / metabolism
  • Blood Platelets / pathology
  • Eczema / genetics
  • Eczema / immunology
  • Eczema / metabolism
  • Genetic Therapy / trends
  • Humans
  • Proteins / chemistry
  • Proteins / genetics
  • Proteins / metabolism
  • Wiskott-Aldrich Syndrome Protein
  • Wiskott-Aldrich Syndrome* / genetics
  • Wiskott-Aldrich Syndrome* / immunology
  • Wiskott-Aldrich Syndrome* / pathology
  • Wiskott-Aldrich Syndrome* / therapy

Substances

  • Proteins
  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein