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Case report
Novel mutation in the CD27 gene in a patient presenting with hypogammaglobulinemia, bronchiectasis and EBV-driven lymphoproliferative disease
  1. Rashmi Kishore,
  2. Aditya Gupta,
  3. Aditya Kumar Gupta and
  4. Sushil Kumar Kabra
  1. Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
  1. Correspondence to Aditya Kumar Gupta; adivick{at}


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 .

  • immunology
  • immunological products and vaccines
  • paediatrics (drugs and medicines)
  • paediatric oncology
  • congenital disorders
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  • Contributors RK was involved in acquisition, analysis and interpretation of the data and writing the case report. AG was involved in the acquisition of data and analysis of the report. AKG and SKK were involved in conception, design and analysis of data. All authors were involved in revision, provided critical inputs and approved the final version of the manuscript. AKG would be the guarantor for the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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