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

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  (X...

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Bibliographic Details
Main Authors: Sepideh Safaei, Mohammad Reza Fazlollahi, Masoud Houshmand, Amir Ali Hamidieh, Mohammad Hassan Bemanian, Samin Alavi, Farideh Mousavi, Zahra Pourpak, Mostafa Moin
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2012-12-01
Series:Iranian Journal of Allergy, Asthma and Immunology
Subjects:
Mutations
Thrombocytopenia
Wiskott-Aldrich syndrome
Online Access:https://ijaai.tums.ac.ir/index.php/ijaai/article/view/541
Description
Summary: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.
ISSN:1735-1502
1735-5249

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