title: Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology.
abstract: Early diagnosis is an important factor in a better prognosis in patients with Wiskott-Aldrich syndrome (WAS), but it is not always easy to distinguish between WAS and immune thrombocytopenic purpura on clinical grounds. To confirm or to exclude a WAS diagnosis promptly for children with thrombocytopenia, the authors performed flow cytometric screening of Wiskott-Aldrich syndrome protein (WASP) for 10 children with thrombocytopenia of an unknown etiology. Five children were diagnosed with WAS, and the remaining 5 were diagnosed as having non-WAS causes of thrombocytopenia. There were no ambiguous results, and these were confirmed by genetic analysis. The authors conclude that screening by flow cytometry for WASP is recommended for boys with persistent thrombocytopenia of an unknown etiology.
authors.affiliation: Department of Human Gene Therapy, Hokkaido University Graduate School of Medicine, Sapporo, Japan. tada-ari@med.hokudai.ac.jp
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
authors.forename: Masaru
authors.initials: M
authors.lastname: Nakajima
authors.forename: Jukei
authors.initials: J
authors.lastname: Yoshida
authors.forename: Kazumi
authors.initials: K
authors.lastname: Yamato
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Nagatoshi
authors.forename: Fumio
authors.initials: F
authors.lastname: Yanai
authors.forename: Alendry P
authors.initials: AP
authors.lastname: Caviles
authors.forename: David L
authors.initials: DL
authors.lastname: Nelson
authors.forename: Yukio
authors.initials: Y
authors.lastname: Sakiyama
mesh_terms: D002675:Child, Preschool; D005434:Flow Cytometry; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000032:analysis / Q000235:genetics; D013921:Thrombocytopenia / Q000209:etiology*; D014923:Wiskott-Aldrich Syndrome / Q000150:complications* / Q000175:diagnosis*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein