scholarly journals Detection of carriers of the autosomal form of chronic granulomatous disease

Blood ◽  
1988 ◽  
Vol 71 (2) ◽  
pp. 505-507 ◽  
Author(s):  
AJ Verhoeven ◽  
ML van Schaik ◽  
D Roos ◽  
RS Weening
Keyword(s):  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Granulomatous Disease ◽  
Mosaic Pattern ◽  
Simple Method ◽  
Nbt Test ◽  
Activated Neutrophils ◽  
Slide Test ◽  
Microscopic Slide ◽  
Stimulation Of

The NADPH:O2 oxidoreductase catalyzing the respiratory burst in activated phagocytes from healthy individuals is not operative in phagocytes from patients with chronic granulomatous disease (CGD). In a microscopic slide test using the dye nitroblue tetrazolium (NBT), carriers of X-linked CGD can be recognized by a mosaic pattern of NBT- positive and NBT-negative cells, governed by the expression of an unaffected or an affected X chromosome, respectively. Until now, it has not been possible to detect carriers of the autosomal form of CGD (other than by family studies) because all cells of these carriers stain positive in the NBT test. We have investigated whether neutrophils from carriers of autosomal CGD can be recognized by measurement of the rate of oxygen uptake upon stimulation of the cells. It was found that with the phorbol ester PMA as a stimulus, the respiratory burst is significantly lower in autosomal CGD carriers. With serum-treated zymosan as a stimulus, no difference between controls and carriers was observed. The addition of f-Met-Leu-Phe (1 microM) to PMA-activated neutrophils of control donors caused a transient increase in oxygen consumption of about 40%. Under these conditions, an increase of more than 100% was observed in neutrophils from carriers of autosomal CGD. These findings provide a simple method for the detection of carriers of the autosomal form of CGD.

scholarly journals Detection of carriers of the autosomal form of chronic granulomatous disease

Blood ◽  
1988 ◽  
Vol 71 (2) ◽  
pp. 505-507 ◽  
Author(s):  
AJ Verhoeven ◽  
ML van Schaik ◽  
D Roos ◽  
RS Weening
Keyword(s):  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Granulomatous Disease ◽  
Mosaic Pattern ◽  
Simple Method ◽  
Nbt Test ◽  
Activated Neutrophils ◽  
Slide Test ◽  
Microscopic Slide ◽  
Stimulation Of

Abstract The NADPH:O2 oxidoreductase catalyzing the respiratory burst in activated phagocytes from healthy individuals is not operative in phagocytes from patients with chronic granulomatous disease (CGD). In a microscopic slide test using the dye nitroblue tetrazolium (NBT), carriers of X-linked CGD can be recognized by a mosaic pattern of NBT- positive and NBT-negative cells, governed by the expression of an unaffected or an affected X chromosome, respectively. Until now, it has not been possible to detect carriers of the autosomal form of CGD (other than by family studies) because all cells of these carriers stain positive in the NBT test. We have investigated whether neutrophils from carriers of autosomal CGD can be recognized by measurement of the rate of oxygen uptake upon stimulation of the cells. It was found that with the phorbol ester PMA as a stimulus, the respiratory burst is significantly lower in autosomal CGD carriers. With serum-treated zymosan as a stimulus, no difference between controls and carriers was observed. The addition of f-Met-Leu-Phe (1 microM) to PMA-activated neutrophils of control donors caused a transient increase in oxygen consumption of about 40%. Under these conditions, an increase of more than 100% was observed in neutrophils from carriers of autosomal CGD. These findings provide a simple method for the detection of carriers of the autosomal form of CGD.

scholarly journals NADPH-binding component of the respiratory burst oxidase system: studies using neutrophil membranes from patients with chronic granulomatous disease lacking the beta-subunit of cytochrome b558.

1994 ◽  
Vol 179 (1) ◽  
pp. 291-297 ◽  
Author(s):  
S Tsunawaki ◽  
H Mizunari ◽  
H Namiki ◽  
T Kuratsuji
Keyword(s):  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Beta Subunit ◽  
Human Neutrophils ◽  
Granulomatous Disease ◽  
Oxidase System ◽  
Cytochrome B558 ◽  
Respiratory Burst Oxidase ◽  
Stimulation Of ◽  
Binding Component

The NADPH-binding site of the respiratory burst oxidase system of neutrophils has been proposed to be either at a cytosolic component or at the beta-subunit of cytochrome b558. In this study, affinity labeling of resting and stimulated membranes, the latter having been assembled by all of the oxidase components from both membrane and cytosol, was carried out using [32P]NADPH dialdehyde (oNADPH). Stimulation of human neutrophils with PMA greatly increased O2(-)-generating activity and caused considerable translocation of the cytosolic components p47phox and p67phox. Nevertheless, PMA stimulation did not produce a labeled band which included positions at 47, 67, and approximately 32 kD. The most intense band reflected a molecular mass of 84 kD regardless of the state of activation, but a labeled band was never found near the beta-subunit (91 kD) of cytochrome b558. This 84-kD protein was further confirmed in neutrophils of 14 patients with gp91phox-deficient X-linked chronic granulomatous disease. These results indicate that the NADPH-binding component is not recruited from the cytosol, and also, that a membranous redox component besides cytochrome b558 must be involved in the NADPH oxidase system.

Decreased Nitroblue Tetrazolium Dye Reduction in the Phagocytes of Patients Receiving Prednisone

PEDIATRICS ◽  
1970 ◽  
Vol 45 (5) ◽  
pp. 861-865
Author(s):  
Denis R. Miller ◽  
Henry G. Kaplan
Keyword(s):  
Chronic Granulomatous Disease ◽  
Nitroblue Tetrazolium ◽  
Quantitative Assay ◽  
Granulomatous Disease ◽  
Host Defenses ◽  
Dye Reduction ◽  
Slide Test ◽  
Intracellular Metabolism

Nitroblue tetrazolium (NBT) dye reduction by leukocytes of 21 patients receiving prednisone was significantly decreased. Nineteen percent of the patients had values similar to those found in children with chronic granulomatous disease, and 57% had heterozygous-range NBT dye reduction. A qualitative NBT dye reduction "slide test" correlated well with the quantitative assay. The uptake of particles by the phagocytes of steroid-treated patients appeared normal. The exact mechanism of corticosteroid action remains unknown. The decreased dye reduction observed in vitro suggests an induced defect of intracellular metabolism which may be related to known alterations of host defenses which occur in patients receiving these hormones.

scholarly journals Clinical observation of Сhronic granulomatous disease in a 6-year-old child

2020 ◽  
Vol 19 (4) ◽  
pp. 69-72
Author(s):  
G. A. Kharchenko ◽  
O. G. Kimirilova
Keyword(s):  
Chronic Granulomatous Disease ◽  
Clinical Observation ◽  
Fungal Infections ◽  
Genetic Defect ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Laboratory Method ◽  
Granulomatous Disease ◽  
Hematopoietic Stem ◽  
Nbt Test

Chronic granulomatous disease (CGD) is a hereditary disease caused by a genetic defect of violations of oxygen — dependent mechanisms of phagocytosis. Clinical manifestations of the disease are recurrent bacterial or fungal infections of the skin, hepatic abscesses, pneumonia, osteomyelitis, sepsis, meningitis et al. Most available laboratory method for the diagnosis of CGD is the test of histochemical nitro blue tetrazolium recovery (NBT-test). Allogeneic hematopoietic stem cell transplantation is considered a radical treatment for chronic granulomatous disease. The article presents a clinical observation of the manifestation of chronic granulomatous disease with an unfavorable outcome in a child aged 6 years.

scholarly journals X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91-phox Component of Respiratory-Burst Oxidase

1998 ◽  
Vol 62 (6) ◽  
pp. 1320-1331 ◽  
Author(s):  
Julie Rae ◽  
Peter E. Newburger ◽  
Mary C. Dinauer ◽  
Deborah Noack ◽  
Penelope J. Hopkins ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Granulomatous Disease ◽  
Gene Encoding ◽  
Disease Mutations ◽  
Cybb Gene ◽  
Respiratory Burst Oxidase

A variant form of X-linked chronic granulomatous disease with normal nitroblue tetrazolium slide test and cytochrome b

1983 ◽  
Vol 13 (3) ◽  
pp. 243-247 ◽  
Author(s):  
NIELS BORREGAARD ◽  
ANDREW R. CROSS ◽  
TROELS HERLIN ◽  
OWEN T. G. JONES ◽  
ANTHONY W. SEGAL ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Cytochrome B ◽  
Nitroblue Tetrazolium ◽  
Variant Form ◽  
Granulomatous Disease ◽  
Slide Test

scholarly journals Expression of a chronic granulomatous disease-like defect by fluoride- exhausted neutrophils

Blood ◽  
1982 ◽  
Vol 60 (4) ◽  
pp. 822-826 ◽  
Author(s):  
Y Matzner ◽  
LM Brass ◽  
BJ McMurrich ◽  
WA Peters ◽  
J Andre-Schwartz ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Respiratory Burst ◽  
Normal Rate ◽  
Granulomatous Disease

Abstract Neutrophils incubated with 20 mM F- express a respiratory burst without degranulating or performing phagocytosis. After 60 min of F- treatment, the burst is exhausted and cannot be restarted. Neutrophils so treated have a microbicidal defect similar to that of chronic granulomatous disease (CGD): they kill Str. mitis at a nearly normal rate, but show a marked impairment in the destruction of S. aureus. They differ from CGD neutrophils in that they also display a defect in motility. This defect, however, is not so severe as to seriously impair their ability to kill bacteria by mechanisms that are independent of endogenously generated microbicidal oxidants.

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