|
Chronic granulomatous disease
|
0.100 |
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
|
0.100 |
Biomarker
|
group |
BEFREE |
Just as patients with chronic granulomatous disease who lack NADPH oxidase rarely develop SLE, NCF-2-null mice on a nonautoimmune background were susceptible to a chronic granulomatous disease-like opportunistic infection but did not develop lupus.
|
28471497 |
2017 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients.
|
28035544 |
2017 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
|
27220316 |
2016 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective respiratory burst and thus diminished killing of bacteria and fungi.
|
27222152 |
2016 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by mutations in the five structural genes (CYBB, CYBA, NCF1, NCF2, and NCF4) that typically results in a decrease in function or inability to generate a respiratory burst, leading to defective killing of pathogens, including fungi and intracellular bacteria.
|
27666509 |
2016 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
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
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Sixteen patients from 14 unrelated families had X-linked CGD (66.7 %), four had mutations in the NCF1 gene (19 %), and three, from two unrelated families, had mutations in NCF2 (9.5 %) [Corrected].
|
24081483 |
2013 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
These techniques will be useful to rapidly assess the expression of the cytosolic components, p47phox and p67phox, and represents important secondary screening tests for CGD.
|
23306776 |
2013 |
|
Chronic granulomatous disease
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Transducible form of p47phox and p67phox compensate for defective NADPH oxidase activity in neutrophils of patients with chronic granulomatous disease.
|
22138397 |
2012 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here, we assessed mutation analysis of NCF2 in 4 CGD patients with p67-phox defect in Iran.
|
23264412 |
2012 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD).
|
22514628 |
2012 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We conclude that Alu-induced deletion of the TPR4 domain of p67-phox leads to loss of function and accelerated degradation of the protein, and thus represents a new mechanism causing p67-phox-deficient CGD.
|
19953534 |
2010 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A selective decrease in intracellular staining for p67-phox suggested the diagnosis of autosomal recessive CGD due to NCF-2 gene mutations, and a novel homozygous and hypomorphic NCF-2 gene mutation was found.
|
18625437 |
2008 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-Linked (XL) CGD results from a mutation in the CYBB gene encoding the gp91phox subunit, while autosomal recessive (AR) CGD is associated with mutations in one of the NCF1, NCF2 and CYBA genes that encode the p47phox, p67phox and p22phox subunits, respectively.
|
16937026 |
2006 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Among the at least 5 subunits cre-ating a functional NADPH oxidase, a molecular defect located in any of the gp91phox, p22phox, p47phox, or p67phox subunits may cause CGD.
|
15577746 |
2005 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
CGD results from the absence or the dysfunction of various components of NADPH oxidase, and autosomal recessive CGD with the lack of p67-phox (A67 CGD) is the rarest form of the disease.
|
11499676 |
2001 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
In p67(phox) deficient chronic granulomatous disease (CGD) patients, p67-phox is missing and NADPH oxidase activity is abolished.
|
10973811 |
2000 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a group of inherited disorders of host defense caused by a mutation in any of the four components of phagocyte NADPH oxidase, namely gp91-, p22-, p47-, and p67-phox.
|
10914676 |
2000 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
These studies show that, as in gp91-phox and p22-phox deficiencies, the p67-phox CGD patients show a high degree of heterogeneity in the genetic defects that underlie their disease.
|
10498624 |
1999 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This study provides a basis for development of gene therapy for the p67phox deficient form of CGD.
|
9057660 |
1997 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
After randomization, 9 CGD patients (4 with gp91phox, 3 with p47phox, 1 with p67phox deficiency and 1 with unspecified CGD) were given IFN-gamma, either 50 or 100 microg/m2 subcutaneously on 2 consecutive days after double blinded randomization.
|
9129047 |
1997 |
|
Chronic granulomatous disease
|
0.100 |
Biomarker
|
group |
BEFREE |
This defect was found in the genomic DNA of this patient in heterozygous state and does not correspond to those previously found in other cases of CGD lacking the p67phox.
|
9070911 |
1997 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
|
8879195 |
1996 |
|
Chronic granulomatous disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We performed mutation analysis of p67-phox mRNA from a CGD patient who lacks the protein and found an in-frame deletion from nucleotide 694 to 879, which corresponds to the entire sequence of exons 8 and 9.
|
8781442 |
1996 |