title: Wiskott-Aldrich syndrome with macrothrombocytopenia.
abstract: BACKGROUND
  Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype.
  
  
  METHODS
  3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome.
  
  
  METHODS
  Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome.
  
  
  RESULTS
  Maternally inherited causative mutation in the exon 2 of the WAS gene was disclosed.
  
  
  CONCLUSIONS
  This is a need for multidisciplinary assessment of patients with congenital or early infantile thrombocytopenia, including testing for mutations of the WAS gene in all unexplained cases even in the absence of characteristic microthrombocytopenia.
authors.affiliation: University Childrens Hospital and #Faculty of Medicine, University of Belgrade, Belgrade, Serbia. Correspondence to: Dr Aleksandar Dimitrijevic, Department of Neurology, University Childrens Hospital, Belgrade, Serbia. aleksandar.dimitrijevic@udk.bg.ac.rs.
authors.forename: Dejan
authors.initials: D
authors.lastname: Skoric
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Dimitrijevic
authors.forename: Goran
authors.initials: G
authors.lastname: Cuturilo
authors.forename: Petar
authors.initials: P
authors.lastname: Ivanovski
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D013921:Thrombocytopenia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein