|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
E919 is a highly conserved residue in NADPH oxidases, and a mutation of the corresponding residue E568 in human NOX2 has been reported to be one of the causes of chronic granulomatous disease.
|
31379142 |
2020 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
For that, we used induced pluripotent stem cells (iPSCs) derived from X-linked Chronic Granulomatous Disease (X<sup>0</sup>CGD) patients with deficiency in NOX2, and AR22<sup>0</sup>CGD patients with deficiency in p22<sup>phox</sup> subunit which decreases NOX1, NOX2, NOX3 and NOX4 activities.
|
31626946 |
2020 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins.
|
31172494 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Inactivating mutations in alleles of the NOX2 complex cause chronic granulomatous disease (CGD), characterized by an enhanced susceptibility to infections and autoimmune diseases such as Systemic lupus erythematosus (SLE).
|
31349119 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
To establish a proof of principle for our approach, we chose as disease model the chronic granulomatous disease (CGD), an X-linked severe immunodeficiency due to abnormalities in CYBB (GP91) gene, including large genomic deletions.
|
30895693 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Humans with compromised NOX2-mediated ROS formation develop chronic granulomatous disease characterized by recurrent bacterial and fungal infections.
|
30270440 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
We previously reported that sarcoplasmic/endoplasmic reticulum calcium pump (SERCA) inhibitors could be used to rescue mutant H338Y-gp91phox protein of a particular type of CGD with a <i>Cybb<sup>C1024T</sup></i> mutation, leading to endoplasmic reticulum (ER) retention of the mutant protein.
|
31085592 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Genetic defects in CYBB are responsible for the disease in the majority of male CGD patients.
|
30904913 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Inactivating NOX variants are associated with comorbid intestinal inflammation in chronic granulomatous disease (CGD; NOX2) and pediatric inflammatory bowel disease (IBD; NOX1); however Nox-deficient mice do not reflect human disease susceptibility.
|
31554901 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Here, we report the case of a teenage girl with X-linked CGD associated with a heterozygous mutation in exon 5 of the CYBB gene (c.389G > C; R130P), which causes skipping of exon 5, resulting in a premature stop codon in exon 6 of CYBB.
|
30633606 |
2019 |
|
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 (OMIM #300481) gene encoding the gp91(phox) protein, and an autosomal recessive (AR-CGD) form caused by mutations in the CYBA (OMIM #608508), NCF1 (OMIM #608512), NCF2 (OMIM #608515) and NCF4 (OMIM #601488) genes encoding p22(phox), p47(phox), p67(phox) and p40(phox), respectively.
|
30506560 |
2019 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is predominantly caused by a mutation in the CYBB gene encoding gp91<sup>phox</sup> on the X-chromosome.
|
29573449 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Mutations in CYBB cause X-linked CGD and account for 65% to 70% of cases in Western countries.
|
28528201 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene.
|
29947158 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting from loss of function mutations in the reactive oxygen species generating phagocyte NADPH oxidase (NOX2).
|
30050527 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
AlteredExpression
|
group |
BEFREE |
Finally, we proved that the NADPH oxidase is not active in the T cell compartment even when forcing gp91phox expression transducing T cells from X-CGD and HD with a SIN lentiviral vector (LVV) encoding the gp91phox cDNA.
|
29410324 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Currently, allogenic hematopoietic stem cell transplantation (HSCT) is the only curative treatment for chronic granulomatous disease, although gene therapy may provide a new therapeutic option for the treatment of patients with CGD.
|
29373243 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
AlteredExpression
|
group |
BEFREE |
Four patients with chronic granulomatous disease (CGD) are known with LINE-1-mediated insertional inactivation of CYBB, the gene that encodes the gp91<sup>phox</sup> component of the phagocyte NADPH oxidase.
|
29774526 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
We used the CRISPR/Cas9 system for targeted repair of patient-specific point mutations in the Cytochrome b-245 heavy chain gene (CYBB), whose inactivation causes chronic granulomatous disease (XCGD)-a life-threatening immunodeficiency disorder characterized by the inability of neutrophils and macrophages to produce microbicidal reactive oxygen species (ROS).
|
29499925 |
2018 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
In this review, we will evaluate the discovery of CGD and our present knowledge of the role of NOX2 in S. aureus infection.
|
27965320 |
2017 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
The main genetic form is the X-linked CGD leading to the absence of cytochrome <i>b</i><sub>558</sub> composed of NOX2 and p22 <i>
|
28356734 |
2017 |
|
Chronic granulomatous disease
|
0.900 |
AlteredExpression
|
group |
BEFREE |
Experimental studies corroborated these reports in chronic granulomatous disease by demonstrating (1) Nox2 is upregulated in atherosclerotic plaque, and this upregulation significantly correlates with oxidative stress and (2) pharmacological inhibition of Nox2 is associated with a delayed atherosclerotic progression in animal models.
|
27932349 |
2017 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
NOX2 deficiency in CGD-iPSCs resulted in an abnormal neural induction in vitro, as revealed by a reduced expression of neuroprogenitor markers (NES, BDNF, OTX2, NRSF/REST), and a decreased generation of mature neurons.
|
28575744 |
2017 |
|
Chronic granulomatous disease
|
0.900 |
Biomarker
|
group |
BEFREE |
Previous studies have shown that NOX2 is essential for killing of <i>G. bethesdensis</i> by neutrophils and monocytes and that the bacteriostatic activity of monocyte-derived macrophages (MDM) requires NOX2 and gamma interferon (IFN-γ) pretreatment.To determine whether <i>G. bethesdensis</i> evades phagolysosomal killing, a host defense pathway intact in both normal and CGD MDM, or whether it occupies a distinct intracellular niche in CGD MDM, we assessed the trafficking patterns of this organism.We observed colocalization of <i>G. bethesdensis</i> with an early endosome antigen 1 (EEA1)-positive compartment, followed by colocalization with lysosome-associated membrane protein 1 (LAMP1)-positive and LysoTracker-positive late phagosomes; these characteristics were similar in both normal and CGD MDM.
|
28320834 |
2017 |
|
Chronic granulomatous disease
|
0.900 |
GeneticVariation
|
group |
BEFREE |
A mutation in CYBB gene encoding gp91-phox located on chromosome Xp21.1, leads to X-linked CGD.
|
27917630 |
2016 |