Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β

Lachlan P. Healy, Gustavo R. Rossi, Jai Rautela, Charlotte A. Slade, Nicholas D. Huntington, Ingrid M. Winship, Fernando Souza-Fonseca-Guimaraes

Research output: Contribution to journalArticleOtherpeer-review

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 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.

Original languageEnglish
Article number904
Number of pages8
JournalFrontiers in Immunology
Volume10
DOIs
Publication statusPublished - 1 May 2019

Keywords

  • CD56bright/dim subsets
  • Hereditary Hemorrhagic Telangiectasia
  • loss-of-function mutations
  • NK cell
  • SMAD4
  • TGF-β signaling

Cite this

Healy, Lachlan P. ; Rossi, Gustavo R. ; Rautela, Jai ; Slade, Charlotte A. ; Huntington, Nicholas D. ; Winship, Ingrid M. ; Souza-Fonseca-Guimaraes, Fernando. / Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β. In: Frontiers in Immunology. 2019 ; Vol. 10.
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Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β. / Healy, Lachlan P.; Rossi, Gustavo R.; Rautela, Jai; Slade, Charlotte A.; Huntington, Nicholas D.; Winship, Ingrid M.; Souza-Fonseca-Guimaraes, Fernando.

In: Frontiers in Immunology, Vol. 10, 904, 01.05.2019.

Research output: Contribution to journalArticleOtherpeer-review

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