title: Systemic lupus erythematosus and Wiskott-Aldrich syndrome in an Italian patient.
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.
authors.affiliation: Department of Nephrology, University Medical Centre Groningen, Groningen, The Netherlands. g.monteferrante@int.umcg.nl
authors.forename: G
authors.initials: G
authors.lastname: Monteferrante
authors.forename: M
authors.initials: M
authors.lastname: Giani
authors.forename: Mc
authors.initials: M
authors.lastname: van den Heuvel
mesh_terms: D000328:Adult; D001706:Biopsy; D015897:Comorbidity; D005260:Female; D006801:Humans; D007558:Italy; D007668:Kidney / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D044465:White People / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology