A novel mutation of WAS gene in a boy with Mycobacterium bovis infection in spleen

作者:Pacharn Punchama*; Boonyawat Boonchai; Tantemsapya Niramol; Visitsunthorn Nualanong; Jirapongsananuruk Orathai
来源:Asian Pacific Journal of Allergy and Immunology, 2017, 35(3): 166-170.
DOI:10.12932/AP0792

摘要

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.

  • 出版日期2017-9

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