{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T15:41:16Z","timestamp":1788536476638,"version":"build-2803163510"},"reference-count":27,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,1,26]]},"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:p>CD27 deficiency is a rare primary immune deficiency which affects T cells, B cells and NK cells and is associated with hypogammaglobulinemia. Clinical presentation varies from asymptomatic disease to life-threatening Epstein Barr Virus (EBV)-driven complications including malignancy. Delay in diagnosis and late presentation adversely affects the clinical outcome and survival. We report a 10-year-old girl who had been symptomatic since 3\u2009years of age with recurrent infections, developed bronchiectasis and was found to have hypogammaglobulinemia. Initially diagnosed as common variable immune deficiency, she had persistent lymphadenopathy, hepatosplenomegaly and pancytopenia, raising a clinical suspicion of a lymphoproliferative condition. On investigation, she was found to have a novel mutation involving the CD27 gene with very high EBV load. She was given rituximab injections to which she showed partial response and later developed non-Hodgkin\u2019s lymphoma .<\/jats:p>","DOI":"10.1136\/bcr-2019-233482","type":"journal-article","created":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T04:35:19Z","timestamp":1581309319000},"page":"e233482","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease"],"prefix":"10.1136","volume":"13","author":[{"given":"Rashmi","family":"Kishore","sequence":"first","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aditya","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 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