Abstract

Regardless of ethnicity or geographical distribution, Wiskott-Aldrich syndrome affects 1 in every 100,000 live male births. It has been established that Wiskott-Aldrich syndrome may potentially be a source of autoimmune illnesses and reticuloendothelial malignancies, even though most patients present with the traditional triad of thrombocytopenia, eczema, and recurrent bacterial infections. This case report introduces a 4-year-old boy born with hematemesis, thrombocytopenia, eczema, recurring infections, and, most surprisingly, normal platelet size. Genetic testing confirmed the diagnosis, primarily based on clinical suspicion. Thus the case study attempts to increase awareness among doctors in Bahrain and globally in considering the diagnosis of Wiskott-Aldrich syndrome in any patient with eczema, recurrent infections and thrombocytopenia regardless of having a normal mean platelet volume .

Keywords: Genetic testing, immunity disorder, primary immunodeficiency disorder, thrombocytopenia, Wiskott-Aldrich syndrome