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: 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 GermlineCausalMutation disease ORPHANET CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. 22197273 2012
CUI: C3554540
Disease: LYMPHOPROLIFERATIVE SYNDROME 2
LYMPHOPROLIFERATIVE SYNDROME 2 		0.720 CausalMutation disease CLINVAR
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: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE Consistent with previous studies, we have described two groups of patients with normal (CVID-21norm) or increased (CVID-21lo) proportions of CD27(neg)CD21(neg)CD38(neg) B cells. 21041728 2010
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE Correspondingly, most CVID patients exhibit a severely decreased proportion of class switched memory B cells (CD19+CD27+IgD-IgM-IgG+ or IgA+) in their peripheral blood (CVID type I). 12100033 2002
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE V(H)1-69(+) B cells of MC patients are phenotypically heterogeneous and resemble either mature MZ B cells (IgM(+)CD27(+)CD21(high)) or the unusual CD21(low) B cells that accumulate in other immunological disorders such as common variable immunodeficiency (CVID) or HIV infection. 22940579 2013
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE Finally, a correlation between the frequency of CD27+ memory B-cells and clinical features was observed in CVID patients. 23305827 2014
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE CD27 is commonly used as marker of memory B cells for the classification of B-cell deficiencies including common variable immune deficiency. 22801960 2013
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 AlteredExpression disease BEFREE Common variable immune deficiency (CVID) is a primary immune deficiency characterized by low levels of serum immune globulins, lack of Ab, and reduced numbers of CD27+ memory B cells. 16424230 2006
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE The observation of defective memory B cells with abnormal cell marker expression and function demonstrates that naive CVID B cells including those expressing IgD(+) CD27(+), in analogy to cord blood and hyper-IgM syndrome B cells, may be responsible for their failure to differentiate into plasma cells and to produce high-affinity antibodies of different isotypes. 11987983 2002
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 Biomarker disease BEFREE Using flow cytometry, we further demonstrated that there was a reduction in B cells (CD19+), switched memory B cells (CD27+IgD-) and T follicular helper (Tfh) cells (both CD4+CXCR5+ and CD4+CXCR5Hi) in a CVID patient with NFKB2/p100Δ19, compared to healthy controls. 24888602 2014
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.090 AlteredExpression disease BEFREE We show that TLR7- or 9-activated B cells from CVID subjects with >0.5% peripheral isotype-switched CD27(+) B cells (group 2) have increased mature Cγ1 and Cγ2 heavy-chain mRNA transcripts compared to subjects who have <0.5% isotype-switched cells (group 1). 22048980 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.090 Biomarker disease BEFREE While the physiology of the costimulatory systems including OX40-OX40L, CD28/CTLA-4-CD80/86, ICOS-B7RP1 and CD70-CD27 has been relatively well studied in SLE, recent data on the immunopathology of the CD137-CD137 ligand (CD137L) system in murine lupus models and patients with SLE highlight the critical role of this costimulatory system in initiating and perpetuating the diverse clinical and serological phenotypes of SLE. 31500130 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.090 Biomarker disease BEFREE CD27(high)/CD38(+)/CD19(dim)/surface Ig(low)/CD20(-)/CD138(+) plasma cells were found at high frequencies in active but not inactive SLE patients. 11067960 2000
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.090 AlteredExpression disease BEFREE SERPINB3 is physiologically expressed on the surface of CD27(+) B lymphocytes, but its expression is reduced in HCV viral infection and not detectable in SLE patients. 22829702 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.090 Biomarker disease LHGDN Additionally, SLE CCR7-, CD27+ and CCR7-, CD27- CD4 memory T cells proliferated poorly in response to in vitro stimulation and underwent significantly more apoptosis than their normal counterparts. 16802356 2006
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.090 AlteredExpression disease BEFREE A new population of cells lacking expression of CD27 represents a notable component of the B cell memory compartment in systemic lupus erythematosus. 17475894 2007
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.090 Biomarker disease BEFREE Systemic Lupus Erythematosus (SLE) is characterized by B cells lacking IgD and CD27 (double negative; DN). 30314758 2018