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|Title:||A novel mutation of WAS gene in a boy with mycobacterium bovis infection in spleen|
Phramongkutklao College of Medicine
|Keywords:||Immunology and Microbiology|
|Citation:||Asian Pacific Journal of Allergy and Immunology. Vol.35, No.3 (2017), 166-170|
|Abstract:||© 2017, Allergy and Immunology Society of Thailand. All rights reserved. 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|
|Appears in Collections:||Scopus 2016-2017|
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