|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
Biomarker
|
disease |
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 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease.
|
30633606 |
2019 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of the Nox2 (gp91phox) catalytic subunit of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase is a genetic cause of X-linked chronic granulomatous disease, a condition in which patients are prone to infection resulting from the loss of oxidant production by neutrophils.
|
30995985 |
2019 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).
|
29560547 |
2018 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease.
|
29702544 |
2018 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Impaired X-CGD T cell compartment is gp91phox-NADPH oxidase independent.
|
29410324 |
2018 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Background Platelets from patients with X-linked chronic granulomatous disease or mice deficient in nicotinamide adenine dinucleotide (phosphate) (NAD(P)H) oxidase isoform NOX2 exhibit diminished reactive oxygen species (ROS) generation and platelet activation.
|
30007118 |
2018 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a male patient suffering from X-linked chronic granulomatous disease (CGD) we found a c.389G>T mutation in exon 5 of the CYBB gene.
|
28886419 |
2017 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes.
|
28168067 |
2017 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
|
28251166 |
2017 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.
|
27701760 |
2017 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with X-linked chronic granulomatous disease with hereditary Nox2 deficiency not only have impaired bacterial killing but, in association with loss of Nox2 function, also have enhanced carotid artery dilation, impaired platelet-related thrombosis, and reduced carotid atherosclerotic burden.
|
27932349 |
2017 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR-associated 9) to repair a mutation in the CYBB gene of CD34<sup>+</sup> HSPCs from patients with the immunodeficiency disorder X-linked chronic granulomatous disease (X-CGD).
|
28077679 |
2017 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Induced pluripotent stem cells (iPSCs) derived from a patient with X-linked chronic granulomatous disease were used as clonable target cells for transduction with alpharetroviral vectors harboring codon-optimized CYBB cDNA.
|
27763786 |
2016 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.
|
26316390 |
2016 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.
|
27666509 |
2016 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked chronic granulomatous disease [X-CGD] due to hemizygous mutations in CYBB is characterised by invasive bacterial and fungal infections and granulomatous inflammation.
|
26464403 |
2016 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in a Patient with Chronic Granulomatous Disease and Active Infection: A First Report.
|
26453586 |
2015 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.
|
24999735 |
2014 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease.
|
24999735 |
2014 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
Biomarker
|
disease |
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 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
All vectors restored gp91(phox) expression and function in human X-CGD myeloid cell lines, primary monocytes, and differentiated myeloid cells.
|
24869932 |
2014 |
|
Granulomatous Disease, Chronic, X-Linked
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother.
|
23859418 |
2013 |