Successful renal transplantation in a patient with a Wiskott-Aldrich syndrome protein (WASP) gene mutation

Transpl Int. 2015 Aug;28(8):1005-9. doi: 10.1111/tri.12583. Epub 2015 Apr 30.

Abstract

Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disorder caused by mutations in the WAS protein (WASP) gene. Renal disease progressing to renal failure is a well-recognized complication in patients with WAS. Only a few case reports of renal transplantation have been reported to date. Here, we present a patient with a WASP mutation who suffered from severe atopic eczema, mild thrombocytopenia and only a slightly increased frequency of infections, who then developed IgA nephropathy and consequently underwent renal transplantation, which was successful. This study demonstrates that renal transplantation is possible in patients with WAS, regardless of conceivable complications.

Keywords: IgA nephropathy; Wiskott-Aldrich syndrome; immunodeficiency; renal transplantation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Genetic Markers
  • Glomerulonephritis, IGA / diagnosis
  • Glomerulonephritis, IGA / etiology
  • Glomerulonephritis, IGA / surgery*
  • Humans
  • Kidney Transplantation*
  • Male
  • Mutation
  • Wiskott-Aldrich Syndrome / complications*
  • Wiskott-Aldrich Syndrome / diagnosis
  • Wiskott-Aldrich Syndrome / genetics
  • Wiskott-Aldrich Syndrome Protein / genetics*

Substances

  • Genetic Markers
  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein