|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The second patient, with autosomal CGD, has a mutation in the donor splice site of intron 1 of CYBA that activates a cryptic donor splice site downstream in intron 1, causing the insertion of intronic sequences in the mRNA.
|
31364312 |
2019 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.
|
28941186 |
2017 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
|
29132304 |
2017 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CYBA mutations lead to one of the autosomal recessive forms of chronic granulomatous disease (AR22(0)CGD) clinically characterized by recurrent and severe infections in early childhood.
|
27048830 |
2016 |
|
Chronic granulomatous disease
|
0.500 |
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
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The cohort includes 10 male patients with X-linked CGD and one female with extremely lyonized expression of a defective CYBB allele.Six patients had mutation in CYBA.
|
22924696 |
2012 |
|
Chronic granulomatous disease
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
|
20167518 |
2010 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Four of the five genes involved in CGD are autosomal; these are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox.
|
20167518 |
2010 |
|
Chronic granulomatous disease
|
0.500 |
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
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
One of the rarest forms of chronic granulomatous disease (CGD) is caused by mutations in CYBA, which encodes the p22-phox subunit of the phagocyte NADPH oxidase, leading to defective intracellular killing.
|
18422995 |
2008 |
|
Chronic granulomatous disease
|
0.500 |
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
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.
|
12073015 |
2002 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Here, we report the case of an autosomal recessive CGD patient with a defect in the p22 phox subunit.
|
12073015 |
2002 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the p22-phox gene (CYBA) locus in 16q24 result in one of the rare autosomal recessive forms of CGD.
|
10759707 |
2000 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
|
10914676 |
2000 |
|
Chronic granulomatous disease
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Immunoblots showed that neutrophils from one patient had small amounts of p22-phox and gp91-phox and a low level of O2- forming oxidase activity, in contrast to the complete absence of both subunits in two patients with typical CGD.
|
10068684 |
1999 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Several other genes, including the alpha subunit of cytochrome B (CYBA), which is deleted or mutated in the autosomal form of chronic granulomatous disease, are located in the 16q24.3 region, but PCR amplification showed that this gene was present in the proband.
|
10479485 |
1999 |
|
Chronic granulomatous disease
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Absence of the p22phox membrane component of the NADPH oxidase complex resulted in a significantly reduced level of respiratory burst activity which was comparable to that observed in X-CGD, whereas reduced but detectable levels of respiratory burst activity were observed in a patient with diminished levels of p22phox and in a patient with deficiency of the cytosolic p47phox component.
|
9338608 |
1997 |
|
Chronic granulomatous disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Absence of p22-phox in autosomal CGD patient-derived B-cell lines results in detectable levels of an incompletely glycosylated gp91-phox precursor.
|
8615831 |
1996 |
|
Chronic granulomatous disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A male CGD patient with neutrophil granulocytes devoid of any spectrometrically detectable cytochrome b558 owing to autosomally inherited p22-phox deficiency (phenotype, A22-) is reported.
|
8168815 |
1994 |
|
Chronic granulomatous disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Transduction of progenitors corrected the gp91phox (seven patients) and p22phox (two patients) CGD phagocyte oxidase defect to 2.5% and 4.9% of normal O2-. production, respectively, representing an 87-fold and 161-fold increase.
|
7517218 |
1994 |
|
Chronic granulomatous disease
|
0.500 |
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
|
0.500 |
Biomarker
|
group |
BEFREE |
The genetic reconstitution of the respiratory burst in A22(0) CGD B lymphocytes by transfer of the wild-type p22phox cDNA represents a further step towards somatic gene therapy for this subgroup of A22(0) CGD.
|
8245781 |
1993 |