Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
0.080 AlteredExpression disease BEFREE CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. 7508119 1994
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.070 Biomarker disease BEFREE B cell differentiation defects in common variable immunodeficiency are ameliorated after stimulation with anti-CD40 antibody and IL-10. 7515919 1994
Entrez Id: 958
Gene Symbol: CD40
CD40
0.050 Biomarker disease BEFREE B cell differentiation defects in common variable immunodeficiency are ameliorated after stimulation with anti-CD40 antibody and IL-10. 7515919 1994
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.030 Biomarker disease BEFREE These data indicate that the patient with CVID has a defect in TCR-mediated signalling at the level of the T cells which is not present in his histoidentical healthy brothers or in his haploidentical IgA-deficient sister. 7819063 1994
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.060 AlteredExpression disease BEFREE In contrast to the decreased IL-2 and IFN-gamma mRNA levels, IL-2R transcripts examined in parallel were normal in CVID T cells on stimulation with antigen. 8349943 1993
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.060 AlteredExpression disease BEFREE Defective interleukin-2 and interferon-gamma gene expression in response to antigen in a subgroup of patients with common variable immunodeficiency. 8349943 1993
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.060 AlteredExpression disease BEFREE Increased IL-6 gene expression and production in patients with common variable immunodeficiency. 8485909 1993
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.780 Biomarker disease MGD Nuclear factor (NF)-kappa B2 (p100/p52) is required for normal splenic microarchitecture and B cell-mediated immune responses. 9432976 1998
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.060 Biomarker disease BEFREE Some CVID PBL stimulated with IL-2, IL-10 and anti-CD40 monoclonal antibody, expressed the Pax5 gene. 9486401 1998
Entrez Id: 5079
Gene Symbol: PAX5
PAX5
0.010 AlteredExpression disease BEFREE In common variable immunodeficiency (CVID) peripheral blood lymphocytes (PBL) with a decreased number of B cells, no Pax5 gene expression was detected. 9486401 1998
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 Biomarker disease BEFREE Crossover events within the MHC indicated a susceptibility locus for IgAD/CVID between the class III markers D821/D823 and HLA-B8, a region populated by 21 genes that include tumor necrosis factor alpha and lymphotoxins alpha and beta. 9508785 1998
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 Biomarker disease BEFREE The association between "granulomatous" CVID and TNF +488A was independent of HLA class I and II associations. 9550427 1997
Entrez Id: 4049
Gene Symbol: LTA
LTA
0.010 GeneticVariation disease BEFREE TNF and lymphotoxin-alpha polymorphisms associated with common variable immunodeficiency: role in the pathogenesis of granulomatous disease. 9550427 1997
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
0.080 AlteredExpression disease BEFREE Therefore, it is possible that some cases of CVID in females represent partial deficiency of CD40L expression in carriers of the CD40L mutation. 9933119 1999
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
0.700 Biomarker disease BEFREE Viruses and bacteria in bronchoalveolar lavage fluids, protected specimen brush samples, and bronchial biopsies from 14 patients with primary hypogammaglobulinemia (11 patients with common variable immunodeficiency [CVID] and three patients with X-linked agammaglobulinemia [XLA]) were analyzed. 10194166 1999
Entrez Id: 695
Gene Symbol: BTK
BTK
0.070 Biomarker disease BEFREE Viruses and bacteria in bronchoalveolar lavage fluids, protected specimen brush samples, and bronchial biopsies from 14 patients with primary hypogammaglobulinemia (11 patients with common variable immunodeficiency [CVID] and three patients with X-linked agammaglobulinemia [XLA]) were analyzed. 10194166 1999
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 AlteredExpression disease BEFREE There was a significant increase in IL-2 expression in CD4+ (and CD4+28-) cells and an increase in TNF-alpha expression in CD8+28- cells following IVIG in CVID, but not in XLA patients. 10361243 1999
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.060 AlteredExpression disease BEFREE This increase in TNF-alpha and IL-2, combined with unchanged IFN-gamma expression, is evidence against the putative 'anti-inflammatory' role of IVIG, and may explain the failure of resolution of granulomata in CVID patients treated with IVIG alone. 10361243 1999
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.010 Biomarker disease BEFREE Patients with CVID (n = 42), were typed using gene amplification and sequence-specific oligonucleotide probing for HLA-DRB1, DRB3, DQA1 and DQB1 loci and their typing compared with that of 96 IgAD and 334 healthy controls. 10361244 1999
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.010 Biomarker disease BEFREE Patients with CVID (n = 42), were typed using gene amplification and sequence-specific oligonucleotide probing for HLA-DRB1, DRB3, DQA1 and DQB1 loci and their typing compared with that of 96 IgAD and 334 healthy controls. 10361244 1999
Entrez Id: 3125
Gene Symbol: HLA-DRB3
HLA-DRB3
0.010 Biomarker disease BEFREE Patients with CVID (n = 42), were typed using gene amplification and sequence-specific oligonucleotide probing for HLA-DRB1, DRB3, DQA1 and DQB1 loci and their typing compared with that of 96 IgAD and 334 healthy controls. 10361244 1999
Entrez Id: 355
Gene Symbol: FAS
FAS
0.010 AlteredExpression disease BEFREE Our results clearly show increased spontaneous apoptosis and CD95 expression on the CD4+ and CD4+CD45RA+ subsets from lymphopenic CVID patients compared with normal subjects and disease controls. 10403927 1999
Entrez Id: 10986
Gene Symbol: IGAD1
IGAD1
0.030 GeneticVariation disease BEFREE Although these results do not exclude the presence of a minor predisposing locus on this chromosome, such a putative locus would confer a population risk of developing IgAD/CVID much lower than IGAD1. 10438966 1999
Entrez Id: 929
Gene Symbol: CD14
CD14
0.010 Biomarker disease BEFREE We show that LPS-stimulated circulating CD14-positive monocytes from patients with common variable immunodeficiency (CVID) express a higher proportion of intracellular IL-12-positive cells than monocytes from patients with X-linked agammaglobulinemia or normal subjects. 10605046 2000
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.040 GeneticVariation disease BEFREE We investigated the role of MBL polymorphism in common variable immunodeficiency (CVID), a disease of unknown aetiology characterized by defective humoral immunity, recurrent infections and highly variable clinical phenotype. 10652157 2000