Author/Authors :
Safaei، Sepideh نويسنده Immunology, Asthma & Allergy Research Institute , Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Safaei, Sepideh , FAZLOLLAHI، MOHAMMAD REZA نويسنده , , Houshmand، Masoud نويسنده , , Hamidieh، Amir Ali نويسنده Hematology-Oncology & SCT Research Centre, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran Hamidieh, Amir Ali , Bemanian، Mohammad Hassan نويسنده , , Alavi، Samin نويسنده , , Mousavi، Farideh نويسنده , , Pourpak، Zahra نويسنده , , Moin، Mostafa نويسنده ,
Abstract :
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-Linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich syndrome was performed. Five previously reported mutations and six novel mutations including G8X, R41X, D283E, P412fsX446, E464X, and AfsX358 were detected.
