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

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

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    7 Citations (Scopus)

    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. Lupus (2009) 18, 273-277.

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

    Keywords

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

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