Common Variable Immunodeficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In contrast, circulating follicular helper T-cell frequency and expression of inducible T-cell co-stimulator and chemokine receptors were only significantly altered in patients with common variable immunodeficiency.
|
27634199 |
2017 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2 With the increasing number of disease genes identified in CVID, it has become clear that CVID is an umbrella diagnosis and that many of these genetic defects cause distinct disease entities.
|
27250108 |
2016 |
Common Variable Immunodeficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Within CXCR5+CD4+ T cells, the percentage of PD-1 (+) was higher and that of CCR7 (+) was lower in Group I than in Group II and N. The percentages of Treg and TFH reg were similar in both CVID groups and in N. TFH responded to stimulation increasing the expression of the costimulatory molecules CD40L and ICOS as did N. After submitogenic PHA+IL-2 stimulation, intracellular expression of TFH cytokines (IL-10, IL-21) was higher than N in Group I, and IL-4 was higher than N in Group II.
|
27069935 |
2016 |
Common Variable Immunodeficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three different classifications, B lymphocyte subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) gene mutations, CTLA-4 and ICOS gene polymorphisms in Turkish patients with common variable immunodeficiency.
|
22699762 |
2012 |
Common Variable Immunodeficiency
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The discovery of human ICOS deficiency showed that a monogenic disorder could account for the full spectrum of manifestations seen in childhood and adulthood-onset CVID, including autoimmune, inflammatory, and malignant disease complications, as well as recurrent infections.
|
19426217 |
2009 |
Common Variable Immunodeficiency
|
0.800 |
GeneticVariation
|
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
|
0.800 |
GeneticVariation
|
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Until recently the only known genetic defect specific to CVID was ICOS deficiency that accounts for about 1% of the patients analyzed.
|
17917015 |
2007 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, several mutations in genes encoding for molecules (CD19, TACI, ICOS) involved in B cell survival and isotype switch have been identified in patients with CVID.
|
17173844 |
2007 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Human ICOS deficiency is indistinguishable from CVID and thus serves as a monogenic model for this complex syndrome.
|
16384931 |
2006 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
LHGDN |
The incidence of ICOS deficiency among patients with CVID is less than 5%.
|
15507387 |
2004 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
The incidence of ICOS deficiency among patients with CVID is less than 5%.
|
15507387 |
2004 |
Common Variable Immunodeficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.
|
12577056 |
2003 |
Common Variable Immunodeficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, the authors discovered that the homozygous loss of the ICOS in humans presents as common variable immunodeficiency, the most prevalent treated primary immunodeficiency in man.
|
14612664 |
2003 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
MGD |
ICOS is critical for CD40-mediated antibody class switching.
|
11343122 |
2001 |
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
MGD |
ICOS co-stimulatory receptor is essential for T-cell activation and function.
|
11343121 |
2001 |
Common Variable Immunodeficiency
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Common Variable Immunodeficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
|
29226301 |
2018 |
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients.
|
19380800 |
2009 |
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.
|
12577056 |
2003 |
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.
|
12577056 |
2003 |
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.
|
12577056 |
2003 |
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
ICOS is critical for CD40-mediated antibody class switching.
|
11343122 |
2001 |