Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease.

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 years 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's lymphoma . © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.