Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients


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.

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IssueVol 11, No 4 (2012) QRcode
Mutations Thrombocytopenia Wiskott-Aldrich syndrome

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Safaei S, Fazlollahi MR, Houshmand M, Hamidieh AA, Bemanian MH, Alavi S, Mousavi F, Pourpak Z, Moin M. Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients. Iran J Allergy Asthma Immunol. 1;11(4):345-348.