CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 GeneticVariation disease CLINVAR Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		0.300 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 GeneticVariation disease BEFREE Homozygous mutations in CD3D and CD3E genes lead to a complete block in T-cell development and thus to an early-onset severe combined immunodeficiency phenotype. 16264327 2005
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease LHGDN Expression of CD3 antigens in renal tubule epithelium and renal oncocytomas. 16308105 2005
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.010 AlteredExpression disease LHGDN Expression of CD3 antigens in renal tubule epithelium and renal oncocytomas. 16308105 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 Biomarker group LHGDN Lung carcinomas do not induce T-cell apoptosis via the Fas/Fas ligand pathway but down-regulate CD3 epsilon expression. 17668204 2008
CUI: C0035288
Disease: Reticuloendotheliosis, X-linked
Reticuloendotheliosis, X-linked 		0.010 Biomarker disease BEFREE An additional group of antiapoptotic genes related to T cell receptor-mediated apoptosis was also found to be overexpressed in acute relapse and included TCR-binding CD3E antigen, antiapoptotic serine threonin kinase (AKT), and NF kappa B-associated genes like reticuloendotheliosis viral oncogene homolog A (RELA) and human T cell leukemia virus type I-binding protein (Tax1BP) known to inhibit tumor necrosis factor (TNF)-induced apoptosis. 17804543 2007
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.410 Biomarker group BEFREE Identification of the transgenic integration site in immunodeficient tgε26 human CD3ε transgenic mice. 21203507 2010
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.010 Biomarker phenotype BEFREE Levels of mRNA for CD3ε (a T-cell receptor marker), CD25 (the alpha chain of the interleukin (IL)-2 receptor expressed on activated T-cells and B-cells), CD68 (a marker for monocytes/macrophages), the cell surface glycoprotein intercellular adhesion molecule-1 (ICAM-1), the cytokine interferon-γ (IFN-γ) and the anti-inflammatory cytokine IL-10 were measured in BCC tumor biopsies from 138 patients using real-time PCR. 21980389 2011
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 Biomarker disease BEFREE Levels of mRNA for CD3ε (a T-cell receptor marker), CD25 (the alpha chain of the interleukin (IL)-2 receptor expressed on activated T-cells and B-cells), CD68 (a marker for monocytes/macrophages), the cell surface glycoprotein intercellular adhesion molecule-1 (ICAM-1), the cytokine interferon-γ (IFN-γ) and the anti-inflammatory cytokine IL-10 were measured in BCC tumor biopsies from 138 patients using real-time PCR. 21980389 2011
CUI: C0021368
Disease: Inflammation
Inflammation 		0.300 Biomarker phenotype CTD_human Expression of NLRP3 inflammasome and T cell population markers in adipose tissue are associated with insulin resistance and impaired glucose metabolism in humans. 22325453 2012
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease BEFREE Our data provide important therapeutic proof of concept for future clinical applications of anti-CD3ε mAb treatment in severe combined immunodeficiency forms characterized by poor thymus function and autoimmunity. 22723555 2012
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 GeneticVariation disease BEFREE Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS. 22723555 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 Biomarker group BEFREE Our data provide important therapeutic proof of concept for future clinical applications of anti-CD3ε mAb treatment in severe combined immunodeficiency forms characterized by poor thymus function and autoimmunity. 22723555 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE For treatment of patients with prostate cancer (PCa), we developed a novel T cell-engaging (BiTE) antibody designated AMG 212 or BAY2010112 that is bispecific for prostate-specific membrane antigen (PSMA) and the CD3 epsilon subunit of the T cell receptor complex. 23041545 2012
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE For treatment of patients with prostate cancer (PCa), we developed a novel T cell-engaging (BiTE) antibody designated AMG 212 or BAY2010112 that is bispecific for prostate-specific membrane antigen (PSMA) and the CD3 epsilon subunit of the T cell receptor complex. 23041545 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.030 Biomarker group BEFREE Fc-modified anti-human CD3ε monoclonal antibodies (mAbs) are in clinical development for the treatment of autoimmune diseases. 23751612 2014
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later. 24515816 2014
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.010 Biomarker group BEFREE To address these issues, we have demonstrated that chemically self-assembled nanorings (CSANs) displaying single chain antibodies can bind to both the CD3 ε subunit of the T-cell-receptor/CD3 complex and the CD22 antigen on malignant B cells such as B-leukemias or lymphomas. 26230248 2015
CUI: C0011847
Disease: Diabetes
Diabetes 		0.020 Biomarker disease BEFREE Mucosal administration of CD3-specific monoclonal antibody inhibits diabetes in NOD mice and in a preclinical mouse model transgenic for the CD3 epsilon chain. 27745778 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.020 Biomarker group BEFREE Mucosal administration of CD3-specific monoclonal antibody inhibits diabetes in NOD mice and in a preclinical mouse model transgenic for the CD3 epsilon chain. 27745778 2017
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016