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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

Other Title
동종 제대혈 이식으로 치료한 X 염색체 Exon 10에 1316 G 결손을 가진 Wiskott-Aldrich 증후군 1례
권, 덕근 | 이, 강균 | 지, 윤희 | 정, 현주  | 최, 강덕 | 박, 준은
Clinical pediatric hematology-oncology, 14(2). : 207-211, 2007
Journal Title
Clinical pediatric hematology-oncology
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.

Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
Ajou Authors
박, 준은  |  정, 현주
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