Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

JAK1 mediates intracellular signalling from multiple cytokine receptors. Here, Elettoet al. identify JAK1 mutations that disrupt multiple signalling pathways and are associated with primary immunodeficiency, atypical mycobacterial infection susceptibility and early-onset metastatic bladder carcinoma...

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Autores principales:	Davide Eletto, Siobhan O. Burns, Ivan Angulo, Vincent Plagnol, Kimberly C. Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J. Thrasher, Sergey Nejentsev
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/d9da547a9dd54017bbcb99a3dd2ffae4
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spelling	oai:doaj.org-article:d9da547a9dd54017bbcb99a3dd2ffae42021-12-02T17:33:20ZBiallelic JAK1 mutations in immunodeficient patient with mycobacterial infection10.1038/ncomms139922041-1723https://doaj.org/article/d9da547a9dd54017bbcb99a3dd2ffae42016-12-01T00:00:00Zhttps://doi.org/10.1038/ncomms13992https://doaj.org/toc/2041-1723JAK1 mediates intracellular signalling from multiple cytokine receptors. Here, Elettoet al. identify JAK1 mutations that disrupt multiple signalling pathways and are associated with primary immunodeficiency, atypical mycobacterial infection susceptibility and early-onset metastatic bladder carcinoma.Davide ElettoSiobhan O. BurnsIvan AnguloVincent PlagnolKimberly C. GilmourFrances HenriquezJames CurtisMiguel GasparKarolin NowakVanessa Daza-CajigalDinakantha KumararatneRainer DoffingerAdrian J. ThrasherSergey NejentsevNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Davide Eletto Siobhan O. Burns Ivan Angulo Vincent Plagnol Kimberly C. Gilmour Frances Henriquez James Curtis Miguel Gaspar Karolin Nowak Vanessa Daza-Cajigal Dinakantha Kumararatne Rainer Doffinger Adrian J. Thrasher Sergey Nejentsev Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
description	JAK1 mediates intracellular signalling from multiple cytokine receptors. Here, Elettoet al. identify JAK1 mutations that disrupt multiple signalling pathways and are associated with primary immunodeficiency, atypical mycobacterial infection susceptibility and early-onset metastatic bladder carcinoma.
format	article
author	Davide Eletto Siobhan O. Burns Ivan Angulo Vincent Plagnol Kimberly C. Gilmour Frances Henriquez James Curtis Miguel Gaspar Karolin Nowak Vanessa Daza-Cajigal Dinakantha Kumararatne Rainer Doffinger Adrian J. Thrasher Sergey Nejentsev
author_facet	Davide Eletto Siobhan O. Burns Ivan Angulo Vincent Plagnol Kimberly C. Gilmour Frances Henriquez James Curtis Miguel Gaspar Karolin Nowak Vanessa Daza-Cajigal Dinakantha Kumararatne Rainer Doffinger Adrian J. Thrasher Sergey Nejentsev
author_sort	Davide Eletto
title	Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
title_short	Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
title_full	Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
title_fullStr	Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
title_full_unstemmed	Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
title_sort	biallelic jak1 mutations in immunodeficient patient with mycobacterial infection
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/d9da547a9dd54017bbcb99a3dd2ffae4
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Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

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