Article

STX11 p.R129P variant correlate with an in vitro impairment in NK and CD8+ T-cell-mediated cytotoxicity

2023-12-07

Abstract excerpt

<title>Abstract</title> <p>STX11 encodes a t-SNARE protein essential for the final fusion of lytic granules with the plasma membrane of NK and CD8+ T-cells. Biallelic mutations in STX11 have been associated with familial hemophagocytic lymphohistiocytosis (FHL) type 4. Here, we analyzed the functional relevance of an heterozygous STX11 variant (p.R129P) identified in a pediatric patient diagnosed with Evans syndr...

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Literature Corpus work: 70df14a9-2ce7-596e-bdee-75e63ee72bf1
DOI: 10.21203/rs.3.rs-3632138/v1

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