title: A novel mutation of WAS gene in a boy with Mycobacterium bovis infection in spleen.
abstract: Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder caused by mutations of the gene encoding WAS protein (WASp). A scoring system has been used to grade severity of the disease. However, the phenotype of the disease may progress over time, especially in children younger than 2 years of age. Here, we report a male child who presented with X-linked thrombocytopenia (XLT). Mutation analysis revealed a novel hemizygous 13-bp deletion (c.181_193delGCTGAGCACTGGA) on exon 2 of the WAS gene. This frameshift mutation resulted in a premature terminating codon at position 71 (p.A61fsX10). Molecular analysis of maternal DNA revealed a heterozygosity of the same mutation. The disease progressed to classic WAS within 8 months. Later, gastric varices as a consequence of Mycobacterium bovis infection in the spleen was detected. The rapid worsening of the disease may be due to the severe genotype of this patient.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Punchama
authors.initials: P
authors.lastname: Pacharn
authors.affiliation: Division of Genetics, Department of Pediatrics, Phramongkutklao College of Medicine, Bangkok, Thailand.
authors.forename: Boonchai
authors.initials: B
authors.lastname: Boonyawat
authors.affiliation: Division of Pediatric Surgery, Department of Surgery, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Niramol
authors.initials: N
authors.lastname: Tantemsapya
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Nualanong
authors.initials: N
authors.lastname: Visitsunthorn
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Orathai
authors.initials: O
authors.lastname: Jirapongsananuruk
mesh_terms: D000818:Animals; D004252:DNA Mutational Analysis; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009164:Mycobacterium Infections / Q000150:complications* / Q000175:diagnosis / Q000382:microbiology*; D009163:Mycobacterium bovis; D012867:Skin / Q000473:pathology; D013154:Spleen / Q000000981:diagnostic imaging / Q000382:microbiology*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000209:etiology*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein