%0 Journal Article %T Clinical and Molecular Characters of a Yemeni Child with Wiskott-Aldrich Syndrome %A Saeed Thabet %A Abdulgafoor Kassim %A Nabil Al-Jomaai %A Ramea Alathwary %A Saddam Alhalemi %J Open Access Library Journal %V 6 %N 3 %P 1-7 %@ 2333-9721 %D 2019 %I Open Access Library %R 10.4236/oalib.1105235 %X
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 childĄ¯s mother in heterozygous state.
%K Wiskott-Aldrich %K Microthrombocytopenia %K Eczema %K Yemen %U http://www.oalib.com/paper/5304029