178 237

Cited 0 times in

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
Authors
권, 덕근; 이, 강균; 지, 윤희; 정, 현주; 최, 강덕; 박, 준은
Citation
Clinical Pediatric Hematology-Oncology, 14(2):207-211, 2007
Journal Title
Clinical Pediatric Hematology-Oncology; 임상소아혈액종양
ISSN
1975-2881
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.
Keywords
Wiskott-Aldrich syndromeGene mutationAllogeneic cord blood transplantation
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
박, 준은정, 현주
Files in This Item:
207-211.pdfDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse