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
  • 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.

Keyword

Wiskott-Aldrich syndrome; Gene mutation; Allogeneic cord blood transplantation

MeSH Terms

DNA
Eczema
Exons*
Fetal Blood*
Humans
Immunoglobulin A
Immunoglobulin E
Immunoglobulin M
Korea
Thrombocytopenia
Wiskott-Aldrich Syndrome Protein
Wiskott-Aldrich Syndrome*
DNA
Immunoglobulin A
Immunoglobulin E
Immunoglobulin M
Wiskott-Aldrich Syndrome Protein
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