The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006

J Clin Immunol. 2007 Nov;27(6):634-9. doi: 10.1007/s10875-007-9121-z. Epub 2007 Aug 10.

Abstract

The Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease caused by mutations in the Wiskott-Aldrich Protein (WASP) gene, which typically leads to absent WASP protein expression in WAS leukocytes. However, some patients have been found with small populations of WASP-expressing cells caused by reverse or second-site mutations that allow protein expression. An international consortium was established to further investigate these phenomena. This paper summarizes data collected by this consortium that was presented at a workshop held during the XIIth Meeting of the European Society for Immunodeficiencies (ESID), October, 2006. WASP reversions were noted in approximately 11% of 272 patients tested. Many different cell lineages showed reversions. These data form the foundation for further investigation into this phenomenon, which has implications for therapy of this disease.

Publication types

  • Congress

MeSH terms

  • Adolescent
  • Adult
  • Cell Lineage / genetics
  • Cell Lineage / immunology
  • Child
  • Child, Preschool
  • Europe
  • Humans
  • Infant
  • Mosaicism
  • Mutation
  • Societies, Medical
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome / metabolism*
  • Wiskott-Aldrich Syndrome / pathology
  • Wiskott-Aldrich Syndrome / therapy
  • Wiskott-Aldrich Syndrome Protein / biosynthesis
  • Wiskott-Aldrich Syndrome Protein / deficiency
  • Wiskott-Aldrich Syndrome Protein / genetics
  • Wiskott-Aldrich Syndrome Protein / physiology

Substances

  • Wiskott-Aldrich Syndrome Protein