Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 930
Gene Symbol: CD19
CD19
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
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
0.130 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
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.070 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
Entrez Id: 3669
Gene Symbol: ISG20
ISG20
0.030 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
Entrez Id: 24146
Gene Symbol: CLDN15
CLDN15
0.010 AlteredExpression disease BEFREE In contrast, claudin-15 expression was reduced in adults with GVHD and common variable immunodeficiency (CVID). 31605016 2020
Entrez Id: 9075
Gene Symbol: CLDN2
CLDN2
0.010 Biomarker disease BEFREE We conclude that contributions of claudin-2 and claudin-15 to pathophysiology of and responses to diarrhea in children and adults with GVHD and CVID differ from those in CD and IBD. 31605016 2020
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.780 GeneticVariation disease BEFREE We report the case of a family (mother and her two sons) diagnosed with common variable immunodeficiency 10 due to a mutation in the NFKB2 gene. 31468084 2019
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.780 GeneticVariation disease BEFREE Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity. 30500415 2019
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.780 GeneticVariation disease BEFREE Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2. 30927119 2019
Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
0.780 GeneticVariation disease BEFREE In conclusion, pathogenic stop variants in the ARD of NFKB2 can cause 'infection-only' CVID with an abnormal B-cell phenotype and a variable clinical penetrance. 30953794 2019
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
0.700 GeneticVariation disease BEFREE Rare TACI Mutation in a 3-Year-Old Boy With CVID Phenotype. 31681716 2019
Entrez Id: 1380
Gene Symbol: CR2
CR2
0.600 Biomarker disease BEFREE CVID is a multifactorial antibody deficiency that can be associated with autoimmunity, which some studies have proposed to be secondary to altered CD21 expression. 31089823 2019
Entrez Id: 930
Gene Symbol: CD19
CD19
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
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1
0.330 AlteredExpression disease BEFREE Recently, mutations in <i>IKZF1</i>, encoding the zinc-finger transcription factor IKAROS which is broadly expressed in hematopoietic cells, have been associated with a CVID-like phenotype. 31057532 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 AlteredExpression disease BEFREE We found that (i) adiponectin was down-expressed in patients on maintenance therapy and in treatment-naïve patients, and that it increased in treatment-naïve patients 24 h after the first Ig infusion; (ii) leptin expression did not differ between maintenance patients and controls either before or after the first Ig infusion; (iii) AdipoR1 expression was significantly higher on B lymphocytes, monocytes and NK cells of CVID patients than in controls; (iv) the expression of AdipoR1 and AdipoR2 on B lymphocytes, monocytes and NK cells was higher after the first Ig infusion than in treatment-naïve patients; (v) T-cadherin expression did not differ between treatment- naïve CVID patients and controls, and was not affected by Ig infusion; and (vi) IL-6, IL-8, IL-10, and TNFα levels were differently expressed in CVID patients on therapy maintenance and were not affected by the first Ig replacement therapy. 31827477 2019
Entrez Id: 10673
Gene Symbol: TNFSF13B
TNFSF13B
0.090 Biomarker disease BEFREE Antiapoptotic Bcl-2 was linked with exclusion of apoptosis from B cell follicles in CVID ILD and increased survival of naive CVID B cells cultured with BAFF. 30843876 2019
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
0.080 Biomarker disease BEFREE Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. 30240888 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.070 Biomarker disease BEFREE Moreover, the concentration of IL-17 and IL-10 in the cell culture supernatants of stimulated CD4+ T cells was lower in CVID patients than in healthy controls. 29345621 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.070 AlteredExpression disease BEFREE There were no statistically significant differences among GATA3, IL4, and IL5 gene expressions by CD4<sup>+</sup> T cells of patients and controls, however, the IL10 expressions in CVID patients was significantly lower than in LRBA patients and HCs. 30193889 2019
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.070 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
Entrez Id: 695
Gene Symbol: BTK
BTK
0.070 GeneticVariation disease BEFREE The pathogenic origins of these two diseases are different; agammaglobulinemia is a group of inherited disorders that usually are caused by mutations in the gene encoding Bruton Tyrosine Kinase (BTK) protein while CVID is a heterogeneous disorder mainly without monogenic cause. 31059734 2019
Entrez Id: 695
Gene Symbol: BTK
BTK
0.070 Biomarker disease BEFREE Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. 30240888 2019
Entrez Id: 987
Gene Symbol: LRBA
LRBA
0.050 Biomarker disease BEFREE The study's aim was to evaluate IL-4, IL-5, IL-10 and GATA3 expression in patients with LRBA deficiency and CVID with no known monogenic disease, and further evaluate its relevance with immunological futures and clinical complications of patients. 30193889 2019
Entrez Id: 987
Gene Symbol: LRBA
LRBA
0.050 Biomarker disease BEFREE Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). 31432443 2019
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.040 Biomarker disease BEFREE Antiapoptotic Bcl-2 was linked with exclusion of apoptosis from B cell follicles in CVID ILD and increased survival of naive CVID B cells cultured with BAFF. 30843876 2019