%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