%0 Journal Article
%T Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients
%A Sepideh Safaei
%A Mohammad Reza Fazlollahi
%A Masoud Houshmand
%A Amir Ali Hamidieh
%J Iranian Journal Of Allergy, Asthma and Immunology
%D 2012
%I Tehran University of Medical Sciences
%X 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.
%K Mutations
%K Thrombocytopenia
%K Wiskott-Aldrich syndrome
%U http://ijaai.tums.ac.ir/index.php/ijaai/article/view/565/418