Publication

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

Monteferrante, G., Giani, M. & van den Heuvel, M. C., Mar-2009, In : Lupus. 18, 3, p. 273-277 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

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

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. Lupus (2009) 18, 273-277.

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

    Keywords

  • kidney, systemic lupus erythematosus, thrombocytopenia, Wiskott-Aldrich syndrome, CONGENITAL THROMBOCYTOPENIA, REVISED CRITERIA, WASP GENE, MUTATIONS, CLASSIFICATION, AUTOIMMUNITY, XLT

ID: 4866990