Work

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

Year: 2012

Type: article

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.

Source: PubMed

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

Institutions: Iran University of Medical Sciences, Tehran University of Medical Sciences, National Institute of Genetic Engineering and Biotechnology, Shahid Sadoughi University of Medical Sciences and Health Services, Shahid Beheshti University, Shahid Beheshti University of Medical Sciences

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2182003672

FWCI: 0.398

Cites: 17

Cited by: 6

Related to: 10