title: CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY.
abstract: OBJECTIVE
  The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by micro-thrombocytopenia, eczema, and recurrent infections. We aimed to share our experience with six children with WAS, including two patients with two novel mutations.
  
  
  METHODS
  We present phenotypical and laboratory description of six patients with WAS. The initial clinical presentation, biochemical and radiological features, molecular diagnosis together with long-term follow-up data are provided.
  
  
  RESULTS
  The patients showed increased serum levels of IgE; otherwise the serum levels of IgM were decreased. The percentages of CD3+ T cells were decreased or within lower limit. Four patients underwent molecular genetics analysis and Western blot studies; two of them showed unpublished mutations: a hemizygous splice site mutation in intron 8 (c.778-2A>T), and a hemizygous deletion in exon10 of the WASP gene (c.1017delT; p.S339fsX444) were detected. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells in four studied patients.
  
  
  CONCLUSIONS
  The major characteristics of patients were thrombocytopenia with decreased mean platelet volume and bleeding. All patients had been previously misdiagnosed as idiopathic thrombocytopenic purpura, demonstrating the importance of a careful differential diagnosis, and intense evaluation.
authors.forename: T
authors.initials: T
authors.lastname: Patiroglu
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: H Eke
authors.initials: HE
authors.lastname: Gungor
authors.forename: M A
authors.initials: MA
authors.lastname: Ozdemir
authors.forename: M
authors.initials: M
authors.lastname: Witzel
authors.forename: M
authors.initials: M
authors.lastname: Karakukcu
authors.forename: J
authors.initials: J
authors.lastname: Sawalle-Belohradsky
authors.forename: R
authors.initials: R
authors.lastname: Conca
authors.forename: E
authors.initials: E
authors.lastname: Unal
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D014421:Turkey; D014923:Wiskott-Aldrich Syndrome / Q000097:blood* / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*; D055815:Young Adult
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein