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

摘要

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.