http://purl.uniprot.org/citations/22197273 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22197273 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22197273 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundCD27 is a lymphocyte costimulatory molecule that regulates T-cell, natural killer (NK) cell, B-cell, and plasma cell function, survival, and differentiation. On the basis of its function and expression pattern, we considered CD27 a candidate gene in patients with hypogammaglobulinemia.ObjectiveWe sought to describe the clinical and immunologic phenotypes of patients with genetic CD27 deficiency.MethodsA molecular and extended immunologic analysis was performed on 2 patients lacking CD27 expression.ResultsWe identified 2 brothers with a homozygous mutation in CD27 leading to absence of CD27 expression. Both patients had persistent symptomatic EBV viremia. The index patient was hypogammaglobulinemic, and immunoglobulin replacement therapy was initiated. His brother had aplastic anemia in the course of his EBV infection and died from fulminant gram-positive bacterial sepsis. Immunologically, lack of CD27 expression was associated with impaired T cell-dependent B-cell responses and T-cell dysfunction.ConclusionOur findings identify a role for CD27 in human subjects and suggest that this deficiency can explain particular cases of persistent symptomatic EBV viremia with hypogammaglobulinemia and impaired T cell-dependent antibody generation."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jaci.2011.11.013"xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jaci.2011.11.013"xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Otto S."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Otto S."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Orange J.S."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Orange J.S."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Tesselaar K."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Tesselaar K."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "van Montfrans J.M."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "van Montfrans J.M."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "de Weger R.A."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "de Weger R.A."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Banerjee P.P."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Banerjee P.P."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Betts M.R."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Betts M.R."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Bloem A.C."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Bloem A.C."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Hoepelman A.I."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Hoepelman A.I."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Jol-van der Zijde C.M."xsd:string |
http://purl.uniprot.org/citations/22197273 | http://purl.uniprot.org/core/author | "Jol-van der Zijde C.M."xsd:string |