Cytochrome b positive X-linked chronic granulomatous disease: a normal cell surface expression of cytochrome b.
The polymorphonuclear (PMN) cells from a patient with cytochrome b positive X-linked chronic granulomatous disease (Xb+ CGD) were studied using flow cytometry. Both the cell surface expression of monoclonal antibody defined cytochrome b and the superoxide production (intracellular 2',7'-Dichlorofluorescin Diacetate oxidation) were investigated at a single cell level. Flow cytometry clearly demonstrated the complete absence of superoxide production in the patient's PMN cells, the mosaicism in his mother's PMN cells and also indicated the normal cell surface expression of cytochrome b. The results obtained by Western blot analysis and reduced-minus-oxidized spectra confirmed the presence of functional and normal amounts of cytochrome b. We concluded that this is a case of Xb+ CGD with a normal cell surface expression of cytochrome b.
Azuma
H
H
Department of Paediatrics, Asahikawa Medical College, Japan.
Oomi
H
H
Ueda
D
D
Sasaki
K
K
Makita
Y
Y
Tomizawa
K
K
Sakiyama
Y
Y
Fujita
K
K
Yoshioka
H
H
Okuno
A
A
D000293:Adolescent; D003573:Cytochrome b Group / Q000032:analysis / Q000235:genetics*; D005434:Flow Cytometry; D015870:Gene Expression; D008040:Genetic Linkage; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009504:Neutrophils / Q000737:chemistry / Q000166:cytology / Q000378:metabolism*; D009580:Nitroblue Tetrazolium; D013481:Superoxides / Q000378:metabolism; D014960:X Chromosome
D003573:Cytochrome b Group; D013481:Superoxides; D009580:Nitroblue Tetrazolium