CD27, CD27 molecule, 939

N. diseases: 154; N. variants: 6
Disease: LYMPHOPROLIFERATIVE SYNDROME 2 ×
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 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: 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 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 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 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