IL2RA, interleukin 2 receptor subunit alpha, 3559

N. diseases: 540; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 Biomarker disease BEFREE PBC is virtually absent in children with the exception of one reported child with interleukin 2 receptor α (CD25) deficiency which is associated with an IPEX-like regulatory T cell dysfunction. 20650610 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE This underlines the relevance of IL2RA for RA. 26350950 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 AlteredExpression disease BEFREE A dual action of rheumatoid arthritis synovial fibroblast IL-15 expression on the equilibrium between CD4+CD25+ regulatory T cells and CD4+CD25- responder T cells. 20007590 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE Phenotypic, Functional, and Gene Expression Profiling of Peripheral CD45RA+ and CD45RO+ CD4+CD25+CD127(low) Treg Cells in Patients With Chronic Rheumatoid Arthritis. 26314565 2016
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 AlteredExpression disease BEFREE Within the CD4 T lymphocytes subset we found that the CD45RO- (naive) cells selectively in RA displayed higher levels of CD25 protein and of interferon-gamma mRNA expression when compared with the respective subset of all other investigated groups. 1347492 1992
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE We observed an accumulation of rare nonsynonymous variants exclusive to RA cases in IL2RA and IL2RB (burden test: p = 0.007 and p = 0.018, respectively). 23261300 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 AlteredExpression disease BEFREE DNA microarray analysis of peripheral blood lymphocytes showed significant increase of interleukin (IL)-2 receptor α-chain (CD25) gene expression, a regulatory T cell (Treg) surface marker in severe RA patients. 21670968 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE CD4(+)CD25(+)Foxp3(+) regulatory T cells (Treg) are involved in several autoimmune diseases, including rheumatoid arthritis. 21346237 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE Magnetically sorted CD4+,CD25- and CD4+,CD25+ T cells derived from the PB and SF obtained from RA patients were stimulated alone or in coculture with anti-CD3 monoclonal antibody (mAb) and autologous antigen-presenting cells, in the absence or presence of anti-CD28 mAb or the proinflammatory cytokines interleukin-6 (IL-6), tumor necrosis factor alpha (TNFalpha), or IL-7. 17328044 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE However, replicated associations of HLA-DRB1, PTPN22 (which confer ∼50% of the heritable risk to RA) and IL2RA suggest that cross-ethnicity fine mapping of such loci is apposite for identification of causal variants. 22355377 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE IL2RA/CD25, the gene for interleukin-2 receptor alpha, is emerging as a general susceptibility gene for autoimmune diseases because of its role in the development and function of regulatory T cells and the association of single-nucleotide polymorphisms (SNPs) within this gene with type 1 diabetes mellitus (DM), Graves' disease, rheumatoid arthritis (RA), and multiple sclerosis (MS). 19116909 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 AlteredExpression disease BEFREE It was observed that in peripheral blood, CD4+CD25-FOXP3+/CD4+ levels were reduced in the RA group (P<0.001), and sPD‑1 levels were markedly higher (P<0.001), compared with the HC group. 27909722 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE In this study, we demonstrated that the frequencies of CD3(+) CD4(+) IL-17(+) Th17 cells were significantly higher, and CD4(+) CD25(+) FOXP3(+) Treg cells significantly lower in peripheral blood mononuclear cells from RA patients. 25164131 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE This finding indicates that the inherited altered genetic constitution at IL2RA may predispose to a less destructive course of RA. 31134763 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE In contrast, both antibodies induced early and sustained suppression of RA disease markers, including interleukin (IL)-6, C-reactive protein, IL2RA, and matrix metalloproteinase 1, in DMARD-IR patients. 30358109 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE TNFalphaR p55 gene transfer showed only a limited effect on inhibition of RA synovial fibroblast invasiveness and cartilage degradation. 10088772 1999
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE TRAIL is associated with impaired regulation of CD4+CD25- T cells by regulatory T cells in patients with rheumatoid arthritis. 21732015 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE The frequency and chemokine receptors expression profile of FoxP3-expressing CD4+CD25+ regulatory T cells in SF and peripheral blood (PB) from RA patients and PB from healthy controls were investigated by flow cytometry using three- or four-colour intracellular staining. 18092263 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE The cells in RA PB were similar in phenotype and function to CD4(+)CD25(+) regulatory T cells from controls. 15457445 2004
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE RESULTS Compared with the healthy controls, the proportions of CD3+CD4+ T cells and CD3+CD4+CD25+CD127low T cells in the peripheral blood were significantly higher in RA patients. 30106887 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE Functional assessment was performed by examining the effects of soluble tumor necrosis factor receptor (sTNFR) p55 gene transfer in the SCID mouse model of RA. 11953970 2002
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE In this study, we have used a microarray approach to comprehensively analyze miRNA expression signatures of both naive Tregs (CD4+CD45RO-CD25++) and memory Tregs (CD4+CD45RO+CD25+++), as well as conventional naive (CD4+CD45RO-CD25-) and memory (CD4+CD45RO+CD25-) T cells (Tconvs) derived from peripheral blood of RA patients and matched healthy controls. 24401767 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE The present study provides the first evidence of increased CD25(-)FOXP3(+) cells in RA patients, which were associated with disease activity and with GC treatment in carriers of the high IL-10 genotype, suggesting that this population plays a role in the clinical response to prednisone in RA. 22447883 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 AlteredExpression disease BEFREE In addition, Northern blot analysis indicated abundant expression of both p55 and p75 mRNA in RA synovial joint MNC. 1320571 1992
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE The present genetic and serologic data suggest that inherited altered genetic constitution at the IL2RA locus may predispose to a less destructive course of RA. 23529819 2013