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.
MeSH terms
-
Cell Line
-
Cytotoxicity, Immunologic* / drug effects
-
Humans
-
Infant
-
Interleukin-2 / pharmacology
-
Killer Cells, Natural / drug effects
-
Killer Cells, Natural / immunology*
-
Lymphohistiocytosis, Hemophagocytic / diagnosis
-
Lymphohistiocytosis, Hemophagocytic / genetics*
-
Lymphohistiocytosis, Hemophagocytic / immunology*
-
Male
-
Munc18 Proteins / genetics*
-
Mutation*
-
Pedigree
-
Twins, Dizygotic
Substances
-
Interleukin-2
-
Munc18 Proteins
-
STXBP2 protein, human