TITLE

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

AUTHOR(S)
Monteferrante, G.; Giani, M.; van den Heuvel, M. C.
PUB. DATE
March 2009
SOURCE
Lupus;Mar2009, Vol. 18 Issue 3, p273
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
36541881

 

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