|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
|
23910690 |
2013 |
|
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes.
|
11133775 |
2001 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report a 16-year-old patient with CGD caused by homozygous deletion of NCF1 who atypically presented with ILD.
|
28224353 |
2017 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The second most common subtype of CGD caused by NCF1 mutation accounts for 30% of CGD patients and is inherited in an autosomal recessive manner, with predominance of a homozygotous deltaGT deletion in the genotype.
|
15179325 |
2004 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We report the beneficial clinical course of the patient, together with the effect of rhG-CSF on the granulocyte function, and the present report indicates that rhG-CSF is useful for the treatment of antibiotic-resistant infection in the variant type of p47-phox-defective CGD.
|
9433384 |
1998 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Given these limitations, we have constructed vectors based on adeno-associated virus and used these to transfer a functional copy of the p47phox gene to immortalized B cells derived from patients with p47phox-deficient autosomal recessive CGD.
|
7606005 |
1995 |
|
Chronic granulomatous disease
|
0.400 |
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
|
0.400 |
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
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The mutated NCF-1 resulting from this event is the predominant A47 degrees CGD allele.
|
12176908 |
2002 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
With this method we now found, in three CGD families patients with the normal number of two intact NCF1 genes (and four psiNCF1 genes) and in six CGD families, patients with one intact NCF1 gene (and five psiNCF1 genes).
|
16972229 |
2006 |
|
Chronic granulomatous disease
|
0.400 |
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
|
0.400 |
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
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Our data show that CGD in Iran is predominantly due to mutations in p47-phox, while the number of mutations in p22-phox is roughly equal to that in gp91-phox.
|
20407811 |
2010 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Binding of the p47-phox SH3 domains to p22-phox was abolished by a mutation in one proline-rich sequence (Pro156-->Gln) noted in a distinct form of chronic granulomatous disease and was inhibited by a short proline-rich synthetic peptide corresponding to residues 149-162 of p22-phox.
|
7938008 |
1994 |
|
Chronic granulomatous disease
|
0.400 |
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
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Seven patients presented with one of the autosomal recessive forms of CGD (A47-CGD); all had the most common mutation, a DeltaGT deletion in exon 2 of the NCF1 gene.
|
16123991 |
2006 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Chronic granulomatous disease (CGD) is a primary immunodeficiency of defective neutrophil oxidative burst activity due to mutations in the genes CYBA, NCF-1, NCF-2, and CYBB, which respectively encode the p22-phox, p47-phox, p67-phox, and gp91-phox subunits.
|
18625437 |
2008 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
|
29411231 |
2018 |
|
Chronic granulomatous disease
|
0.400 |
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
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Cytosolic components of this oxidase system include the proteins p67phox and p47phox, deficiencies of which cause the autosomal recessive form of CGD, whereas the X-linked form of the disease is characterized by a deficiency in the plasma membrane component gp91phox.
|
9054662 |
1997 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
About 30% of CGD cases are caused by an autosomally inherited deficiency of a 47-Kd cytoplasmic component of the oxidase (p47-phox).
|
1325210 |
1992 |
|
Chronic granulomatous disease
|
0.400 |
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
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).
|
2393022 |
1990 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this study, we aimed to correct p47phox-deficiency, which is the second most common cause of chronic granulomatous disease, by insertion of a therapeutic p47phox transgene into the AAVS1 locus of human induced PSC (iPSC) using CRISPR-Cas9.
|
31773990 |
2020 |
|
Chronic granulomatous disease
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Involvement of the NCF1 locus in IBD was supported by the observation that chronic inflammation of the bowel is a feature of chronic granulomatous disease caused by NCF1 mutation in 25% of cases.
|
15626894 |
2004 |