AI Article Synopsis

  • Researchers found a new mutation in the STXBP2 gene in dizygotic twins.
  • This mutation impacts the ability of natural killer (NK) cells to kill infected or cancerous cells, and normal treatment with IL-2 (a type of immune booster) does not fix this issue.
  • These findings highlight that STXBP2 is crucial for the proper functioning of NK cells in the immune response.

Article Abstract

We have identified dizygotic twins with a novel syntaxin-binding protein 2 (STXBP2) mutation, where cytotoxicity cannot be restored with IL-2. This defines STXBP2 as an absolute requirement for NK cell cytotoxic function.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646578PMC
http://dx.doi.org/10.1016/j.jaci.2011.12.1003DOI Listing

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