Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
We analyzed whether there is an association between Tregs cells (CD4+CD25+CD127<sup>low</sup> and CD4+CD25+FoxP3+); memory T cells (CD4+CD45RO+); memory B cells (CD19+CD27-IgD-); and CD21<sup>low</sup> B cells (CD19+CD38<sup>low</sup>CD21<sup>low</sup>); as well as autoimmune manifestations in 36 patients with CVID (25 women and 11 men, mean age 24 years), all by flow cytometry.
|
31103252 |
2020 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
The proportions of nCD4+ Treg (CD4+ CD127low CD25high FoxP3+), iCD4+ Treg (CD4+ CD127low CD25high FoxP3+), iCD8+ Treg (CD8+ CD25high CD183+ FoxP3+), and Breg (CD19+ CD24high CD38high) lymphocytes were significantly lower in patients with CVID than in controls.
|
31284281 |
2019 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
Using flow cytometry, we further demonstrated that there was a reduction in B cells (CD19+), switched memory B cells (CD27+IgD-) and T follicular helper (Tfh) cells (both CD4+CXCR5+ and CD4+CXCR5Hi) in a CVID patient with NFKB2/p100Δ19, compared to healthy controls.
|
24888602 |
2014 |
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 |
Biomarker
|
disease |
BEFREE |
Moreover, spontaneous apoptosis of CD19(+) B cells from patients with CVID or IgAD was prevented by a combination of IL-21, IL-4, and anti-CD40 stimulation.
|
19738033 |
2009 |
Common Variable Immunodeficiency
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations have been described in four genes, ICOS, CD19, BAFF-R and TNFRSF13B (encoding TACI), together associated with 10-15% of CVID cases.
|
19210517 |
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 |
Biomarker
|
disease |
BEFREE |
The recent discovery that some CVID patients show monogenic defects in the genes encoding ICOS, TACI or CD19 prompted us to investigate several functional candidate genes in individuals with CVID.
|
18254984 |
2008 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
These findings extend the mutation spectrum of the CD19 deficiency to four, and confirm the homogeneity of the CD19 deficiency as a unique type of CVID.
|
17882224 |
2007 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding the tumour necrosis factor (TNF) superfamily receptors transmembrane activator and calcium-modulating ligand interactor (TACI) and B cell activation factor of the TNF family receptor (BAFF-R), CD19 and the co-stimulatory molecule inducible co-stimulator molecule (ICOS) all lead to CVID and illustrate the complex interplay required to co-ordinate an effective humoral immune response.
|
17697196 |
2007 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
The mean +/- SD absolute count of CD19+ B cells among the 36 patients (65%) with CVID who had inherited HLA*B8 or HLA*B44 was 218 +/- 23 cells/mm3 compared with 119 +/- 27 cells/mm3 in those who had not inherited HLA*B8 or HLA*B44 (P = .008).
|
17304884 |
2007 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
Seven known genetic defects, including Bruton tyrosine kinase (Btk), CD4OL, and signaling lymphocyte activation molecule-associated protein (SAP) (all X-linked) and inducible costimulator molecule (ICOS), transmembrane activator and calcium-modulator and cytophilin ligand interactor (TACI), B-cell-activating factor of the tumor necrosis family receptor (BAFFR), and CD19 (all autosomal recessive), were found in patients with the phenotype of common variable immunodeficiency (CVID).
|
18051214 |
2007 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
In recent years the first three monogenetic defects in the inducible costimulator, transmembrane activator and CAML interactor (TACI), and CD19 were discovered in patients with common variable immunodeficiency revealing a multifaceted genetic background for this disease.
|
16763458 |
2006 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
The patient was originally diagnosed as having common variable immunodeficiency disease because of the presence of circulating B cells (CD19+ B cells: 7%) at 11 years old.
|
16729790 |
2006 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
CTD_human |
An antibody-deficiency syndrome due to mutations in the CD19 gene.
|
16672701 |
2006 |
Common Variable Immunodeficiency
|
0.600 |
Biomarker
|
disease |
BEFREE |
Correspondingly, most CVID patients exhibit a severely decreased proportion of class switched memory B cells (CD19+CD27+IgD-IgM-IgG+ or IgA+) in their peripheral blood (CVID type I).
|
12100033 |
2002 |
Common Variable Immunodeficiency
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|