Clin Pediatr Hematol Oncol.
2007 Oct;14(2):207-211.
A Case of Wiskott-Aldrich Syndrome with 1316 G Deletion in Exon 10 on X-chromosome Treated with Allogeneic Cord Blood Transplantation
- Affiliations
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- 1Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. pedpje@ajou.ac.kr
- 2Department of Pediatrics, Dankook University School of Medicine, Cheonan, Korea.
- 3School of Genomic Engineering, Hankyong National University, Anseong, Korea.
Abstract
- Wiskott-Aldrich syndrome, an X-linked immuno-deficiency disorder caused by mutations of Wiskott-Aldrich syndrome protein (WASP) gene, is characterized by thrombocytopenia, recurrent infections, and eczema. Most of the cases of Wiskott-Aldrich syndrome, reported previously in Korea, were diagnosed entirely based on clinical symptoms and through serum levels of IgM, IgA, and IgE. A deletion of 1316 G in exon 10 of x-chromosome was detected through deoxyribonucleic acid (DNA) gene sequencing in a Wiskott-Aldrich Syndrome patient, who later on was successfully treated with unrelated allogeneic cord blood transplantation.
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