|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Mutations causing the most prevalent form of CGD in western populations are located in the X-linked-CYBB gene.
|
27220316 |
2016 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is caused by defects in nicotinamide adenine dinucleotide phosphate oxidase 2 (NOX2) complex subunits (gp91(phox) (a.k.a.
|
27044504 |
2016 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Here, we aimed the characterization of a novel missense mutation c.1226C > A/p.A409E in the CYBB gene in a patient with X-linked CGD.
|
27666509 |
2016 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Endosomal antigen release was impaired in DCs from chronic granulomatous disease (CGD) patients with dysfunctional NOX2.
|
26907999 |
2016 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
CGD is a genetically heterogeneous disease with an X-linked recessive (XR-CGD) form caused by mutations in the CYBB gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA, NCF1, NCF2, or NCF4 genes encoding p22(phox) , p47(phox) , p67(phox) , and p40(phox) , respectively.
|
26680691 |
2016 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD on clinical (recurrent infections) and biochemical grounds (positive for both the nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR-1,2,3 assay), revealed that only one patient had X-linked CGD, with a large deletion involving both the gp91-phox gene (CYBB) and the McLeod gene (XK).
|
24446915 |
2015 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Genetic defects in NOX2 lead to opportunistic infections and inflammatory manifestations such as granulomas in humans, also known as chronic granulomatous disease (CGD).
|
25689796 |
2015 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Data on CGD carriers reveal that such alterations are related to gp91(phox) expression.
|
25175493 |
2015 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Polymorphonuclear leukocytes (PMN) from patients with chronic granulomatous disease (CGD) fail to produce microbicidal concentrations of reactive oxygen species (ROS) due to mutations in NOX2.
|
26283340 |
2015 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
In particular, deficiency in phagocyte Nox2 oxidase function due to genetic variants (CYBB, CYBA, NCF1, NCF2, NCF4) has been recognized as a direct cause of chronic granulomatous disease (CGD), an inherited immune disorder.
|
26210446 |
2015 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
This difference was comparable in p47(phox)- and gp91(phox)-deficient subtypes of CGD and independent of risk factors in multivariate regression analysis.
|
25239440 |
2014 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Mutations were detected in CYBB gene in 6 patients with XL-CGD and NCF-1 gene mutations were observed in 7 cases of AR- CGD.
|
24276928 |
2014 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the phagocyte reactive oxygen species (ROS)-producing NOX2 enzyme complex and characterized by recurrent infections associated with hyperinflammatory and autoimmune manifestations.
|
24787605 |
2014 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding CYBB are responsible for the majority of the CGD cases.
|
24943880 |
2014 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Meanwhile, ongoing research is constantly refining the CGD disease phenotype, including the definition of factors that may explain the unique engraftment phenotype observed in CGD gene therapy trials.
|
25245086 |
2014 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Our results confirmed that mutations of CYBB gene in the X-CGD are very heterogeneous and not show the peculiarity of the ethnic group.
|
24999735 |
2014 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
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.
|
23826567 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Invasive pulmonary aspergillosis (IPA) is a life-threatening complication of chronic granulomatous disease (CGD), a rare inherited disorder of phagocytes that is characterized by a defect in the production of reactive oxygen species (ROS) caused by mutations in NADPH oxidase 2.
|
23526099 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
The patients with a mutation in CYBB had a wider variability of clinical manifestations and earlier diagnosis (4.6 years) compared to the AR-CGD group (12.9 years).
|
24081483 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
A mutation in the CYBB gene encoding gp91(phox) leads to X-linked recessive CGD.
|
23910690 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Genetic defects in NADPH oxidase (chronic granulomatous disease [CGD]) and corticosteroid-induced immunosupression lead to impaired killing of A. fumigatus and unique susceptibility to invasive aspergillosis via incompletely characterized mechanisms.
|
23817424 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency due to a defect in one of the NADPH oxidase complex subunits; 70 % of cases are X-linked, due to a CYBB mutation, resulting in defective production of gp91PHOX.
|
24078260 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Neutrophil function test with dihydrorhodamine (DHR) showed X linked-CGD pattern and molecular analysis of DNAshowed a splice site mutation (c.338-1G > A) in CYBB gene.
|
23827747 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
This study showed that the patient had gp91-phox deficient CGD while his older brother was a CGD carrier and a Klinefelter, who had inherited both his mother's X chromosomes.
|
23859418 |
2013 |
|
Chronic granulomatous disease
|
0.900 |
AlteredExpression
|
group |
BEFREE |
In this context, we analyzed the myelospecificity of the human miR223 promoter, which is known to be strongly upregulated during myeloid differentiation, to drive myeloid-restricted expression of p47(phox) and gp91(phox) in mouse models of CGD and in primary patient-derived cells.
|
23489116 |
2013 |