Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
However, a number of distinct genetic defects including in inducible co-stimulator (ICOS), B-cell-activating factor receptor (BAFFR) and transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) have been identified in a minority of patients with CVID.
|
26096648 |
2015 |
Common Variable Immunodeficiency
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
BAFF-R levels inversely correlated with serum BAFF concentration both in CVID and healthy subjects.
|
24809296 |
2014 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
B lymphocyte subpopulations, previously defined classification schemes (Freiburg, Paris, EuroClass), TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms were analyzed in 25 common variable immunodeficiency (CVID) patients and 25 healthy controls.
|
22699762 |
2012 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The candidate gene approach has led to the detection of associations between common variable immunodeficiency (CVID) and mutations in the genes TACI, ICOS, BAFF-R, CD19, CD20, and CD81.
|
21905497 |
2011 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
New gene defects associated with a CVID phenotype have been described in BAFF-R, CD81, and CD20 in single consanguineous families.
|
20864887 |
2010 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene.
|
19666484 |
2009 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
In addition, the flowcytometric analysis of the inducible costimulator on activated T cells, CD19 and BAFF-R on B cells are valid screening methods for three of the four known genetic defects associated with CVID.
|
18561200 |
2008 |
Common Variable Immunodeficiency
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
To clarify the pathogenesis of CVID and IgAD of Japanese patients, we investigated the mutations of TNF family members TACI, APRIL, B-cell activating factor (BAFF), B-cell maturation antigen (BCMA) and BAFF receptor (BAFF-R) genes and the expression levels of BAFF and APRIL in patients with CVID, IgAD and X-linked agammaglobulinaemia (XLA).
|
18204790 |
2008 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To test this hypothesis, we sequenced the BAFF-R gene in 48 patients with common variable immunodeficiency (CVID) along with 57 healthy controls.
|
16160919 |
2005 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
To test this hypothesis, we sequenced the BAFF-R gene in 48 patients with common variable immunodeficiency (CVID) along with 57 healthy controls.
|
16160919 |
2005 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
The recent discovery of genetic defects in the tumour necrosis factor receptor superfamily members TACI and BAFF receptor in patients with common variable immunodeficiency denotes further advances in this field.
|
16264328 |
2005 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Common Variable Immunodeficiency
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|