Articles
 

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

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.

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

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How to Cite
1.
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.