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

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...

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Autores principales: Healy, Lachlan P., Rossi, Gustavo R., Rautela, Jai, Slade, Charlotte A., Huntington, Nicholas D., Winship, Ingrid M., Souza-Fonseca-Guimaraes, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506781/
https://www.ncbi.nlm.nih.gov/pubmed/31118932
http://dx.doi.org/10.3389/fimmu.2019.00904
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author Healy, Lachlan P.
Rossi, Gustavo R.
Rautela, Jai
Slade, Charlotte A.
Huntington, Nicholas D.
Winship, Ingrid M.
Souza-Fonseca-Guimaraes, Fernando
author_facet Healy, Lachlan P.
Rossi, Gustavo R.
Rautela, Jai
Slade, Charlotte A.
Huntington, Nicholas D.
Winship, Ingrid M.
Souza-Fonseca-Guimaraes, Fernando
author_sort Healy, Lachlan P.
collection PubMed
description 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-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells.
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spelling pubmed-65067812019-05-22 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 Front Immunol Immunology 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-β1. These data suggest that SMAD4 plays a redundant role in downstream TGF-β signaling in NK cells. Frontiers Media S.A. 2019-05-01 /pmc/articles/PMC6506781/ /pubmed/31118932 http://dx.doi.org/10.3389/fimmu.2019.00904 Text en Copyright © 2019 Healy, Rossi, Rautela, Slade, Huntington, Winship and Souza-Fonseca-Guimaraes. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
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
title Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
title_full Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
title_fullStr Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
title_full_unstemmed Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
title_short Loss-of-Function in SMAD4 Might Not Be Critical for Human Natural Killer Cell Responsiveness to TGF-β
title_sort loss-of-function in smad4 might not be critical for human natural killer cell responsiveness to tgf-β
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506781/
https://www.ncbi.nlm.nih.gov/pubmed/31118932
http://dx.doi.org/10.3389/fimmu.2019.00904
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