Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.

نویسندگان

  • Sepideh Safaei
  • Mohammad Reza Fazlollahi
  • Masoud Houshmand
  • Amir Ali Hamidieh
  • Mohammad Hassan Bemanian
  • Samin Alavi
  • Farideh Mousavi
  • Zahra Pourpak
  • Mostafa Moin
چکیده

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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Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

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عنوان ژورنال:
  • Iranian journal of allergy, asthma, and immunology

دوره 11 4  شماره 

صفحات  -

تاریخ انتشار 2012