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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646578 | PMC |
http://dx.doi.org/10.1016/j.jaci.2011.12.1003 | DOI Listing |
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