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Article

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

BMJ case reports - 9 Feb 2020

Kishore Rashmi, Gupta Aditya, Gupta Aditya Kumar, Kabra Sushil Kumar

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32041749
DOI: 10.1136/bcr-2019-233482
PMCID: PMC7035825

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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