title: X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.
abstract: The authors describe two young brothers and a 12-year-old male with long-standing thrombocytopenia with normal sized platelets, in whom novel mutations of the WAS gene were identified. Their clinical picture and the in vitro assessment of the T-cell function were consistent with X-linked thrombocytopenia (XLT). A high index of suspicion for XLT is required, even in the setting of normal sized platelets for males with affected maternally-related male family members, and males with moderately severe chronic thrombocytopenia that have failed to respond to treatments that are usually effective for immune thrombocytopenia.
authors.affiliation: Department of Pediatrics, Democritus University of Thrace Faculty of Medicine, Alexandroupolis, Thrace, Greece.
authors.forename: Elpis
authors.initials: E
authors.lastname: Mantadakis
authors.forename: Julie
authors.initials: J
authors.lastname: Sawalle-Belohradsky
authors.forename: Marianna
authors.initials: M
authors.lastname: Tzanoudaki
authors.forename: Maria
authors.initials: M
authors.lastname: Kanariou
authors.forename: Athanassios
authors.initials: A
authors.lastname: Chatzimichael
authors.forename: Michael H
authors.initials: MH
authors.lastname: Albert
mesh_terms: D001792:Blood Platelets / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D013921:Thrombocytopenia / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein
keywords: WAS gene; Wiskott-Aldrich syndrome; X-linked thrombocytopenia; mutations