Abstract |
Chronic granulomatous disease (CGD) is a rare genetic disease, which is caused by defects in the NADPH oxidase complex (gp91( phox), p22( phox), p40(phox), p47( phox), and p67( phox)) 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.
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Authors | Hyun-Young Kim, Hee-Jin Kim, Chang-Seok Ki, Dae Won Kim, Keon Hee Yoo, Eun-Suk Kang |
Journal | Annals of laboratory medicine
(Ann Lab Med)
Vol. 33
Issue 4
Pg. 288-92
(Jul 2013)
ISSN: 2234-3814 [Electronic] Korea (South) |
PMID | 23826567
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Membrane Glycoproteins
- Rhodamines
- CYBB protein, human
- NADPH Oxidase 2
- NADPH Oxidases
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Topics |
- 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 2
- NADPH Oxidases
(chemistry, genetics)
- Polymerase Chain Reaction
- Rhodamines
(chemistry, metabolism)
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