Rapid Determination of Chimerism Status Using Dihydrorhodamine Assay in a Patient with X-linked Chronic Granulomatous Disease Following Hematopoietic Stem Cell Transplantation.
10.3343/alm.2013.33.4.288
- Author:
Hyun Young KIM
1
;
Hee Jin KIM
;
Chang Seok KI
;
Dae Won KIM
;
Keon Hee YOO
;
Eun Suk KANG
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. eskang@skku.edu
- Publication Type:Case Reports
- Keywords:
Chronic granulomatous disease;
Dihydrorhodamine assay;
Chimerism
- MeSH:
Base Sequence;
*Chimerism;
DNA Mutational Analysis;
Flow Cytometry;
Granulomatous Disease, Chronic/*diagnosis/*enzymology/genetics/surgery;
*Hematopoietic Stem Cell Transplantation;
Homozygote;
Humans;
Infant, Newborn;
Male;
Membrane Glycoproteins/chemistry/*genetics;
Mutation;
NADPH Oxidase/chemistry/*genetics;
Polymerase Chain Reaction;
Rhodamines/chemistry/metabolism
- From:Annals of Laboratory Medicine
2013;33(4):288-292
- CountryRepublic of Korea
- Language:English
-
Abstract:
Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects in the NADPH oxidase complex (gp91phox, p22phox, p40phox, p47phox, and p67phox) of phagocytes. This defect results in impaired production of superoxide anions and other reactive oxygen species (ROS), which are necessary for killing bacterial and fungal microorganisms and leads to recurrent, life-threatening bacterial and fungal infections and granulomatous inflammation. The dihydrorhodamine (DHR) flow cytometry assay is a useful diagnostic tool for CGD that can detect absent or reduced NADPH oxidase activity in stimulated phagocytes. We report a patient with X-linked CGD carrying a novel mutation of the CYBB gene whose chimerism status following hematopoietic stem cell transplantation (HSCT) has been rapidly determined using the DHR assay. The level of DHR activity correlates well with short tandem repeat PCR analysis. Considering the advantages of this simple, rapid, and cost-effective procedure, serial measurement of DHR assay would facilitate the rapid determination of a patient's engraftment status, as a supplementary monitoring tool of chimerism status following HSCT.
