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Genetic testing identified a hemizygous frameshift mutation in the X linked inhibitor of apoptosis (<jats:italic>XIAP<\/jats:italic>)-gene as well as variants in the MEFV gene indicating Familial Mediterranean Fever (FMF). XIAP expression was markedly reduced in the patient, while a functional assay assessing tumour necrosis factor (TNF)\u03b1 production of monocytes in response to NOD2 stimulation displayed reduced activity. We suggest that the heterozygous MEFV variants and the hemizygous XIAP variant in combination triggered the prolonged and pathological inflammatory response to EBV infection.<\/jats:p>","DOI":"10.1136\/bcr-2016-216922","type":"journal-article","created":{"date-parts":[[2016,9,28]],"date-time":"2016-09-28T15:31:30Z","timestamp":1475076690000},"page":"bcr2016216922","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative 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