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Three patients presented with EBV-associated Hodgkin\u2019s lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 in these patients abolished either CD70 surface expression or binding to its cognate receptor CD27. Blood lymphocyte numbers were normal, but the proportions of memory B cells and EBV-specific effector memory CD8+ T cells were reduced. Furthermore, although T cell proliferation was normal, in vitro\u2013generated EBV-specific cytotoxic T cell activity was reduced because of CD70 deficiency. This reflected impaired activation by, rather than effects during killing of, EBV-transformed B cells. Notably, expression of 2B4 and NKG2D, receptors implicated in controlling EBV infection, on memory CD8+ T cells from CD70-deficient individuals was reduced, consistent with their impaired killing of EBV-infected cells. Thus, autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of inherited CD27 deficiency. Overall, human CD70\u2013CD27 interactions therefore play a nonredundant role in T and B cell\u2013mediated immunity, especially for protection against EBV and humoral immunity.<\/jats:p>","DOI":"10.1084\/jem.20160849","type":"journal-article","created":{"date-parts":[[2016,12,23]],"date-time":"2016-12-23T16:04:26Z","timestamp":1482509066000},"page":"91-106","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":154,"title":["Combined immunodeficiency and Epstein-Barr virus\u2013induced B cell malignancy in humans with inherited CD70 deficiency"],"prefix":"10.1084","volume":"214","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4838-0407","authenticated-orcid":true,"given":"Hassan","family":"Abolhassani","sequence":"first","affiliation":[{"name":"Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE1418 Stockholm, Sweden 1"},{"name":"Research 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