We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56 or CD56 NK cell subset proportions in peripheral blood; and did not result in major differences in either their IL-15-induced proliferation, or their cytokine secretion response to TGF-β1. These data suggest that plays a redundant role in downstream TGF-β signaling in NK cells.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506781 | PMC |
| http://dx.doi.org/10.3389/fimmu.2019.00904 | DOI Listing |
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