Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
Selective immunoglobulin A deficiency
0.320 Biomarker GENOMICS_ENGLAND Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus. 29114388

2017

Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
Selective immunoglobulin A deficiency
0.320 GeneticVariation BEFREE We investigated a family with CVID and identified the heterozygous C104R TNFRSF13B mutation in two of the three index-children with CVID, a mother with selective immunoglobulin A deficiency, a mother with recurrent infections and a healthy grandfather. 19210517

2009

Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
Selective immunoglobulin A deficiency
0.320 GeneticVariation BEFREE To examine the potential contribution of TNFRSF13B variants to CVID, we have applied an evolutionary approach by sequencing its coding region in 451 individuals belonging to 26 worldwide populations, in addition to controls, patients with CVID and selective IgA deficiency (IgAD) from Italy. 19494827

2009

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Selective immunoglobulin A deficiency
0.130 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Selective immunoglobulin A deficiency
0.130 GeneticVariation BEFREE Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 × 10<sup>-8</sup>) loci and association with a rare IFIH1 variant (p.Ile923Val). 27723758

2016

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Selective immunoglobulin A deficiency
0.130 GeneticVariation BEFREE Brief Report: IFIH1 Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency. 25777993

2015

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Selective immunoglobulin A deficiency
0.130 GeneticVariation BEFREE Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. 20694011

2010

Entrez Id: 23274
Gene Symbol: CLEC16A
CLEC16A
Selective immunoglobulin A deficiency
0.110 GeneticVariation BEFREE Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Selective immunoglobulin A deficiency
0.110 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Selective immunoglobulin A deficiency
0.110 Biomarker BEFREE Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 23274
Gene Symbol: CLEC16A
CLEC16A
Selective immunoglobulin A deficiency
0.110 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 942
Gene Symbol: CD86
CD86
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 22806
Gene Symbol: IKZF3
IKZF3
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 115352
Gene Symbol: FCRL3
FCRL3
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 105374266
Gene Symbol: LINC01991
LINC01991
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 2625
Gene Symbol: GATA3
GATA3
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 5771
Gene Symbol: PTPN2
PTPN2
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 1959
Gene Symbol: EGR2
EGR2
Selective immunoglobulin A deficiency
0.100 GeneticVariation GWASCAT Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. 27723758

2016

Entrez Id: 59067
Gene Symbol: IL21
IL21
Selective immunoglobulin A deficiency
0.030 Biomarker BEFREE <b>Results:</b> By evaluating T cell dependent cytokine driven pathways linked to IgA isotype induction we identified a defect involving an IL-21 driven STAT3 activation isolated to B cells in sIgAD individuals. 30936864

2019

Entrez Id: 59067
Gene Symbol: IL21
IL21
Selective immunoglobulin A deficiency
0.030 Biomarker BEFREE Whilst statistical analysis of ELISA results showed significant differences between patients and healthy controls, in our set of patients functional tests yielded no evidence for an involvement of autoantibodies against BAFF, APRIL, or IL-21 in the pathogenesis of CVID or sIgAD. 28651547

2017

Entrez Id: 59067
Gene Symbol: IL21
IL21
Selective immunoglobulin A deficiency
0.030 Biomarker BEFREE Thus, our work provides an initial basis for a potential therapeutic role of IL-21 to reconstitute immunoglobulin production in CVID and IgAD. 19738033

2009

Entrez Id: 10986
Gene Symbol: IGAD1
IGAD1
Selective immunoglobulin A deficiency
0.030 GeneticVariation BEFREE Haplotype analysis, linkage disequilibrium, and homozygosity mapping indicated that HLA-DQ/DR is the major IGAD1 locus, strongly suggesting the autoimmune pathogenesis of IgAD/CVID. 12594308

2003

Entrez Id: 10986
Gene Symbol: IGAD1
IGAD1
Selective immunoglobulin A deficiency
0.030 Biomarker BEFREE Of 110 haplotypes shared by 258 affected family members, a single haplotype (H1) was found in 44 pairs of affected relatives, accounting for the majority of the IGAD1 contribution to the development of IgAD/CVID in our families. 10754342

2000

Entrez Id: 10986
Gene Symbol: IGAD1
IGAD1
Selective immunoglobulin A deficiency
0.030 GeneticVariation BEFREE Our previous linkage analysis of 83 multiple-case IgAD/CVID families containing 449 informative pedigree members showed a significantly increased allele sharing in the chromosome region 6p21 consistent with allelic associations in family-based and case-control studies and provided the evidence for a predisposing locus, termed IGAD1, in the proximal part of the MHC. 10438966

1999