Open AccessNovel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease
Author(s) -
Rashmi Kishore,
Aditya Gupta,
Sushil Kumar Kabra
Publication year - 2020
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2019-233482
Subject(s) - hypogammaglobulinemia , medicine , hepatosplenomegaly , common variable immunodeficiency , bronchiectasis , pancytopenia , immunology , asymptomatic , malignancy , lymphoma , primary immunodeficiency , rare disease , epstein–barr virus , pediatrics , disease , immune system , virus , antibody , bone marrow , lung
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 .