Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
oleh: Lachlan P. Healy, Lachlan P. Healy, Gustavo R. Rossi, Gustavo R. Rossi, Jai Rautela, Charlotte A. Slade, Charlotte A. Slade, Charlotte A. Slade, Nicholas D. Huntington, Nicholas D. Huntington, Ingrid M. Winship, Ingrid M. Winship, Fernando Souza-Fonseca-Guimaraes, Fernando Souza-Fonseca-Guimaraes
| Format: | Article |
|---|---|
| Diterbitkan: | Frontiers Media S.A. 2019-05-01 |
Deskripsi
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 CD56bright or CD56dim 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 SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.