CD27, CD27 molecule, 939

N. diseases: 154; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2
0.720 GeneticVariation disease UNIPROT Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. 22801960 2013
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2
0.720 GeneticVariation disease UNIPROT CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. 22197273 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE We therefore generated a cytoplasmic deletion mutant of CD27 (CD27-trunc) to study the role of CD70 reverse signaling in the immunosurveillance of B-cell malignancies in vivo. 28495792 2017
CUI: C0023418
Disease: leukemia
leukemia
0.050 GeneticVariation disease BEFREE ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype. 28395118 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.050 GeneticVariation disease BEFREE ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype. 28395118 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.040 GeneticVariation disease BEFREE ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype. 28395118 2017
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
0.040 GeneticVariation group BEFREE We have analyzed EBV infection in nine cases of X-linked hyper-immunoglobulin M (hyper-IgM) syndrome who, due to a mutation in CD40 ligand gene, do not have a classical, class-switched memory B-cell population (IgD(-) CD27(+)). 16103163 2005
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
0.030 GeneticVariation disease BEFREE Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and biological characteristics, although usually minor; wild-type MYD88 cases had smaller M-component (1.77 vs 2.72 g/dl, P=0.022), more lymphocytosis (24 vs 5%, P=0.006), higher lactate dehydrogenase level (371 vs 265 UI/L, P=0.002), atypical immunophenotype (CD23-CD27+ +FMC7+ +), less Immunoglobulin Heavy Chain Variable gene (IGHV) somatic hypermutation (57 vs 97%, P=0.012) and less IGHV3-23 gene selection (9 vs 27%, P=0.014). 23446312 2013
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.030 GeneticVariation disease BEFREE ETV6/RUNX1-like acute lymphoblastic leukemia: A novel B-cell precursor leukemia subtype associated with the CD27/CD44 immunophenotype. 28395118 2017
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation disease BEFREE Further phenotyping of these subsets revealed that the blunting was most evident in CD8+ EMRA that expressed adhesion (CD11b: T1D 37.70%, Control 91.48%) and activation markers (CD69: T1D 29.87%, Control 161.43%), and appeared to be the most differentiated (CD27-CD28-: T1D 7.12%, Control 113.76%). 30753130 2019
CUI: C0024530
Disease: Malaria
Malaria
0.020 GeneticVariation disease BEFREE Many chronic infections, including malaria and HIV, are associated with a large expansion of CD21-CD27- 'atypical' memory B cells (MBCs) that exhibit reduced B cell receptor (BCR) signaling and effector functions. 28953967 2017
CUI: C0003864
Disease: Arthritis
Arthritis
0.010 GeneticVariation disease BEFREE PB, SF and ST of 14 autoantibody (AB)-positive (rheumatoid factor [RF]-IgM, RF-IgA, anti-citrullinated peptide [CCP]), 13 negative RA and 13 no-RA chronic arthritides were examined for B-cell subsets (Bm1-Bm5 and IgD-CD27 classifications), zeta-associated protein kinase-70 (ZAP70) expression on B cells and cytokine levels (interleukin [IL]-1β, tumor necrosis factor [TNF]-α, IL-6, IL-8 and monocyte chemotactic protein [MCP]-1). 21607290 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation disease BEFREE In haplotype analysis, CCGAG haplotype in CD27 and TAA haplotype in CD70 conferred an increased risk of breast cancer (P = 5.60 × 10(-3); P = 7.75 × 10(-5), respectively), but TGC, TAC and TGA haplotypes in CD70 were associated with a decreased risk of breast cancer (P = 0.01; P = 5.2 × 10(-3); P = 2.00 × 10(-3), respectively). 22399187 2012
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis
0.010 GeneticVariation disease BEFREE Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and biological characteristics, although usually minor; wild-type MYD88 cases had smaller M-component (1.77 vs 2.72 g/dl, P=0.022), more lymphocytosis (24 vs 5%, P=0.006), higher lactate dehydrogenase level (371 vs 265 UI/L, P=0.002), atypical immunophenotype (CD23-CD27+ +FMC7+ +), less Immunoglobulin Heavy Chain Variable gene (IGHV) somatic hypermutation (57 vs 97%, P=0.012) and less IGHV3-23 gene selection (9 vs 27%, P=0.014). 23446312 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation disease BEFREE In haplotype analysis, CCGAG haplotype in CD27 and TAA haplotype in CD70 conferred an increased risk of breast cancer (P = 5.60 × 10(-3); P = 7.75 × 10(-5), respectively), but TGC, TAC and TGA haplotypes in CD70 were associated with a decreased risk of breast cancer (P = 0.01; P = 5.2 × 10(-3); P = 2.00 × 10(-3), respectively). 22399187 2012
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 GeneticVariation disease BEFREE Association of CD27 and CD70 gene polymorphisms with risk of sporadic breast cancer in Chinese women in Heilongjiang Province. 22399187 2012
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2
0.720 Biomarker disease BEFREE We sought to identify novel mutations in TNFRSF7/CD27 and to provide an overview of clinical, immunologic, and laboratory phenotypes in patients with CD27 deficiency. 25843314 2015
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2
0.720 Biomarker disease CTD_human
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2
0.720 Biomarker disease GENOMICS_ENGLAND We sought to identify novel mutations in TNFRSF7/CD27 and to provide an overview of clinical, immunologic, and laboratory phenotypes in patients with CD27 deficiency. 25843314 2015
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2
0.720 Biomarker disease BEFREE CD27 is a co-stimulatory molecule of T cells, and inherited CD27 deficiency is characterized by high susceptibility to EBV infection, though the underlying pathological mechanisms have not yet been identified. 28011863 2017
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.310 Biomarker disease BEFREE Since homozygosity mapping and exome sequencing did not reveal additional modifying factors, our findings suggest that lack of functional CD27 predisposes towards a combined immunodeficiency associated with potentially fatal EBV-driven hemo-phagocytosis, lymphoproliferation, and lymphoma development. 22801960 2013
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
0.310 Biomarker disease GENOMICS_ENGLAND Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. 25843314 2015
CUI: C0006625
Disease: Cachexia
Cachexia
0.300 Biomarker phenotype CTD_human Molecular analysis of xenograft models of human cancer cachexia--possibilities for therapeutic intervention. 17878525 2007
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases
0.200 Biomarker group RGD Effect of tea polyphenol on cytokine gene expression in rats with alcoholic liver disease. 16698589 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Finally, we review key literature describing progress in elucidating the efficacy and mode of action of OX40- and CD27-targeting mAbs in preclinical models and provide an overview of current clinical trials targeting these promising receptor/ligand pairings in cancer. 29118006 2018