[Wiskott-aldrich syndrome two new mutations: R13X [C83T] and P4121fsX446 [1281delC]]

Wiskott-Aldrich syndrome [WAS] is a life-threatening recessive immunodeficiency disease caused by mutations of the WAS protein [WASP] gene, characterized by thrombocytopenia, eczema and recurrent infections. In order to have accurate diagnosis for the patient referred to the Children Medical Center Hospital, Department of Allergy and Clinical Immunology who were clinically diagnosed as Wiskott-Aldrich patients, genetic analysis was done by polymerase chain reaction [PCR] and sequencing method. In this study, we found two new mutations [P412fsX446 and Gly70Arg] and a previously reported mutation [Arg13X] in WAS gene, responsible for Wiskott-Aldrich syndrome