Loss-of-Function in SMAD4 might not be critical for human natural killer cell responsiveness to TGF-beta
- Author(s)
- Healy, LP; Rossi, GR; Rautela, J; Slade, CA; Huntington, ND; Winship, IM; Souza-Fonseca-Guimaraes, F;
- Journal Title
- Frontiers in Immunology
- Publication Type
- Journal Article
- Abstract
- We characterized the NK cell phenotype and function in three family members with Hereditary Hemorrhagic Telangiectasia (HHT) due to heterozygous SMAD4 mutations. Loss-of-function mutation in this gene did not induce developmental effects to alter CD56(bright) or CD56(dim) 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-beta1. These data suggest that SMAD4 plays a redundant role in downstream TGF-beta signaling in NK cells.
- Publisher
- Frontiers Media
- Research Division(s)
- Immunology
- PubMed ID
- 31118932
- Publisher's Version
- https://doi.org/10.3389/fimmu.2019.00904
- Open Access at Publisher's Site
https://doi.org/10.3389/fimmu.2019.00904- NHMRC Grants
- NHMRC/1124784, NHMRC/1066770, NHMRC/1057852, NHMRC/1124907, NHMRC/1140406,
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2019-06-14 09:36:57
Last Modified: 2019-06-14 11:05:50