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KMID : 0387820070140020207
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Clinical Pediatric Hematology-Oncology
2007 Volume.14 No. 2 p.207 ~ p.211
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A Case of Wiskott-Aldrich Syndrome with 1316 G Deletion in Exon 10 on X-chromosome Treated with Allogeneic Cord Blood Transplantation
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Kwon Duck-Geun
Lee Kang-Gyoon
Jee Youn-Hee
Jung Hyun-Joo
Oyungerel Baatartsoget
Choi Kung-Duk
Park Jun-Eun
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Abstract
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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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KEYWORD
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Wiskott-Aldrich syndrome, Gene mutation, Allogeneic cord blood transplantation
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