Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient

G. Monteferrante, M. Giani, M. C. van den Heuvel

Research output: Contribution to journalArticlepeer-review

Abstract

Systemic lupus erythematosus has not yet been associated with mutations in the Wiskott-Aldrich syndrome gene; moreover, the time courses of platelet number and size in patients with Wiskott-Aldrich syndrome are unknown. In this case, we present the time trends of platelet count and volume and the histopathology of the kidney of a patient with systemic lupus erythematosus and a mutation in the Wiskott-Aldrich syndrome gene. The patient suffered from congenital recessive X-linked thrombocytopenia, and he developed systemic lupus erythematosus at the age of 12 years. Thus, his disease was reclassified as Wiskott-Aldrich syndrome, class 5. The g.257G > A mutation in the Wiskott-Aldrich syndrome gene and reduced expression of the specific messenger were revealed by molecular analyses.

Original languageEnglish
Pages (from-to)273-277
Number of pages5
JournalLupus
Volume18
Issue number3
DOIs
Publication statusPublished - 2009

Keywords

  • Kidney
  • Systemic lupus erythematosus
  • Thrombocytopenia
  • Wiskott-Aldrich syndrome

ASJC Scopus subject areas

  • Rheumatology

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