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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Tehran University of Medical Sciences
2012-12-01
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| Series: | Iranian Journal of Allergy, Asthma and Immunology |
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| Online Access: | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/541 |
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doaj-a3347137c75d4bba9e03e46b26d4940c2020-11-25T04:12:32ZengTehran University of Medical SciencesIranian Journal of Allergy, Asthma and Immunology1735-15021735-52492012-12-01114506Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich PatientsSepideh Safaei0Mohammad Reza Fazlollahi1Masoud Houshmand2Amir Ali Hamidieh3Mohammad Hassan Bemanian4Samin Alavi5Farideh Mousavi6Zahra Pourpak7Mostafa Moin8Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, IranImmunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, IranNational Institute of Genetic Engineering Biotechnology Tehran, IranHematology oncology & Stem cell Transplantation research center, Tehran University of Medical Sciences, Tehran, IranDepartment of pediatrics , Division of Allergy and clinical Immunology, Shahid Sadoghi Hospital, Shahid Sadoghi University of Medical Sciences, Yazd, IranDepartment of Pediatric Hematology-Oncology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IranDepartment of Pediatrics, Shohada Center Hospital, Shaheed Beheshti University of Medical Sciences, Tehran, IranImmunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, IranImmunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran 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. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/541MutationsThrombocytopeniaWiskott-Aldrich syndrome |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Sepideh Safaei Mohammad Reza Fazlollahi Masoud Houshmand Amir Ali Hamidieh Mohammad Hassan Bemanian Samin Alavi Farideh Mousavi Zahra Pourpak Mostafa Moin |
| spellingShingle |
Sepideh Safaei Mohammad Reza Fazlollahi Masoud Houshmand Amir Ali Hamidieh Mohammad Hassan Bemanian Samin Alavi Farideh Mousavi Zahra Pourpak Mostafa Moin Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients Iranian Journal of Allergy, Asthma and Immunology Mutations Thrombocytopenia Wiskott-Aldrich syndrome |
| author_facet |
Sepideh Safaei Mohammad Reza Fazlollahi Masoud Houshmand Amir Ali Hamidieh Mohammad Hassan Bemanian Samin Alavi Farideh Mousavi Zahra Pourpak Mostafa Moin |
| author_sort |
Sepideh Safaei |
| title |
Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients |
| title_short |
Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients |
| title_full |
Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients |
| title_fullStr |
Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients |
| title_full_unstemmed |
Detection of Six Novel Mutations in WASP Gene in Fifteen Iranian Wiskott-Aldrich Patients |
| title_sort |
detection of six novel mutations in wasp gene in fifteen iranian wiskott-aldrich patients |
| publisher |
Tehran University of Medical Sciences |
| series |
Iranian Journal of Allergy, Asthma and Immunology |
| issn |
1735-1502 1735-5249 |
| publishDate |
2012-12-01 |
| description |
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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| topic |
Mutations Thrombocytopenia Wiskott-Aldrich syndrome |
| url |
https://ijaai.tums.ac.ir/index.php/ijaai/article/view/541 |
| work_keys_str_mv |
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