Article
A novel mutation of WAS gene in a boy with Mycobacterium bovis infection in spleen.
Asian Pacific journal of allergy and immunology - 1 Sept 2017
Pacharn Punchama, Boonyawat Boonchai, Tantemsapya Niramol, Visitsunthorn Nualanong, Jirapongsananuruk Orathai
Abstract excerpt
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...
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