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Novel NFKB2 mutation in early-onset CVID.

Yiwen Liu1, Steven Hanson, Padmalal Gurugama

  • 1King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, School of Medicine, Division of Asthma, Allergy & Lung Biology, Department of Immunological Medicine, Denmark Hill, London, SE5 9RS, UK.

Journal of Clinical Immunology
|June 4, 2014
PubMed
Summary

A novel NFKB2 gene mutation causes a truncated protein, leading to reduced B cells and T follicular helper cells in Common Variable Immunodeficiency (CVID) patients. This discovery advances understanding of CVID pathology.

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