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Clinical and Molecular Characters of a Yemeni Child with Wiskott-Aldrich Syndrome

DOI: 10.4236/oalib.1105235, PP. 1-7

Subject Areas: Internal Medicine

Keywords: Wiskott-Aldrich, Microthrombocytopenia, Eczema, Yemen

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Abstract

Wiskott-Aldrich Syndrome is an x-linked immunodeficiency condition charac-terized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott Aldrich Protein (WASP) gene. Hereby we report a 13-month-old Yemeni male infant with mutation in WASP Gene, who presented with congenital microthrombocytopenia, eczema, bleeding tendency and recurrent infections. The variant found in this case creates a shift in the reading frame located in the exon 10 of WAS gene. These variants were also detected in the child’s mother in heterozygous state.

Cite this paper

Thabet, S. , Kassim, A. , Al-Jomaai, N. , Alathwary, R. and Alhalemi, S. (2019). Clinical and Molecular Characters of a Yemeni Child with Wiskott-Aldrich Syndrome. Open Access Library Journal, 6, e5235. doi: http://dx.doi.org/10.4236/oalib.1105235.

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