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 GENOMICS_ENGLAND Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 GeneticVariation disease UNIPROT Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 GeneticVariation disease UNIPROT Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. 23416241 2013
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
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 Biomarker disease GENOMICS_ENGLAND These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. 17196245 2007
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 Biomarker disease GENOMICS_ENGLAND These data show that CD25 deficiency results in an IPEX-like syndrome and suggests that although Foxp3 is not required for normal IL-10 expression by human CD4 lymphocytes, CD25 expression is important. 17196245 2007
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 GermlineCausalMutation disease ORPHANET Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. 9096364 1997
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 Biomarker disease GENOMICS_ENGLAND
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 CausalMutation disease CLINVAR
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 Biomarker disease CTD_human
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
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
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE The frequencies of the minor subsets of CD25+FOXP3low memory Tregs as well as CD25lowCD127lowFOXP3+ Tregs were also increased in children with T1D. 30723474 2019
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. 31808541 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Insight into the associations of MS-associated <i>IL2RA</i> SNPs, as these new findings provide, offers a better understanding of CD25 variation in the immune system and can lead to new insights into how MS-associated SNPs contribute to development of MS. 31242590 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Genetic polymorphism (rs1800693) of TNFRSF1A (type 1 tumour necrosis factor receptor) encodes a potentially anti-inflammatory soluble truncated form of the p55 receptor, which is associated with predisposition to multiple sclerosis but protection against ankylosing spondylitis (AS). 29535371 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASCAT Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes. 31407831 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Daclizumab is a humanized monoclonal IgG1 antibody that binds to CD25 that has been studied for the treatment of multiple sclerosis (MS). 30885425 2019
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
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE The established T1D SNPs rs1159465 (near IL2RA) and rs75352297 (near CCR2 and CCR3) were positively associated with IL-2Rα and CCL4, respectively (P < .01). 29266506 2018
Diabetes Mellitus, Insulin-Dependent
0.500 Biomarker disease CTD_human Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes. 30224649 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE This meta-analysis aims to evaluate the relationship of the IL2RA polymorphisms rs2104286 and rs12722489 with MS risk in different populations. 29648897 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE We speculate that vitamin D<sub>3</sub> may promote the maintenance of CD25-related immune homeostasis in MS. 29153546 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Additionally, the FoxP3 MFIs in CD4 + CD25 + T-Cells of IFN-β1a-treated RRMS were significantly lower than the new cases of MS. 29589548 2018