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

作者：Monteferrante G^*; Giani M; van den Heuvel M C

来源：Lupus, 2009, 18(3): 273-277.

DOI：10.1177/0961203308095000

• kidney
• systemic lupus erythematosus
• thrombocytopenia
• Wiskott-Aldrich syndrome

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.

• 出版日期2009-3