Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22336081.
- Also identified by DOI 10.1016/j.jaci.2011.12.1003 and PMC identifier 3646578.
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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.
Medical subject headings
- Cytotoxicity, Immunologic
- Killer Cells, Natural
- Lymphohistiocytosis, Hemophagocytic
- Munc18 Proteins
- Mutation