title: Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.
abstract: X-linked thrombocytopenia (XLT) is caused by mutations in the WAS gene and characterized by thrombocytopenia with minimal or no immunodeficiency. Patients with XLT usually exhibit persistent thrombocytopenia, and intermittent thrombocytopenia has been described only in two families. Here, we report a patient with intermittent XLT carrying a novel missense mutation (Ala56Thr). He showed residual expression of Wiskott-Aldrich syndrome protein in the lymphocytes and platelets. There appeared to be an association between normal platelet numbers and a post infectious state. Our findings further support the importance of analysis of Wiskott-Aldrich syndrome protein in male patients who exhibit fluctuating courses of thrombocytopenia.
authors.affiliation: Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Japan.
authors.forename: Taizo
authors.initials: T
authors.lastname: Wada
authors.forename: Masatsune
authors.initials: M
authors.lastname: Itoh
authors.forename: Hideaki
authors.initials: H
authors.lastname: Maeba
authors.forename: Tomoko
authors.initials: T
authors.lastname: Toma
authors.forename: Yo
authors.initials: Y
authors.lastname: Niida
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Saikawa
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
mesh_terms: D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism / Q000473:pathology; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D011379:Prognosis; D013921:Thrombocytopenia / Q000235:genetics* / Q000473:pathology*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein
keywords: WASp; Wiskott-Aldrich syndrome; X-linked thrombocytopenia; intermittent thrombocytopenia; missense mutation