Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

Systemic autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS) are rare and often involve genes related to the inflammasome. Here, the authors report a syndrome characterised by systemic inflammation and cold-induced urticarial rash associated with a Factor XII-activating...

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Autores principales:	Jörg Scheffel, Niklas A. Mahnke, Zonne L. M. Hofman, Steven de Maat, Jim Wu, Hanna Bonnekoh, Reuben J. Pengelly, Sarah Ennis, John W. Holloway, Marieluise Kirchner, Philipp Mertins, Martin K. Church, Marcus Maurer, Coen Maas, Karoline Krause
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/e98d9cd321e045eeb259cd21cfaa4555
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spelling	oai:doaj.org-article:e98d9cd321e045eeb259cd21cfaa45552021-12-02T15:37:18ZCold-induced urticarial autoinflammatory syndrome related to factor XII activation10.1038/s41467-019-13984-82041-1723https://doaj.org/article/e98d9cd321e045eeb259cd21cfaa45552020-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-13984-8https://doaj.org/toc/2041-1723Systemic autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS) are rare and often involve genes related to the inflammasome. Here, the authors report a syndrome characterised by systemic inflammation and cold-induced urticarial rash associated with a Factor XII-activating mutation.Jörg ScheffelNiklas A. MahnkeZonne L. M. HofmanSteven de MaatJim WuHanna BonnekohReuben J. PengellySarah EnnisJohn W. HollowayMarieluise KirchnerPhilipp MertinsMartin K. ChurchMarcus MaurerCoen MaasKaroline KrauseNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Jörg Scheffel Niklas A. Mahnke Zonne L. M. Hofman Steven de Maat Jim Wu Hanna Bonnekoh Reuben J. Pengelly Sarah Ennis John W. Holloway Marieluise Kirchner Philipp Mertins Martin K. Church Marcus Maurer Coen Maas Karoline Krause Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
description	Systemic autoinflammatory syndromes such as cryopyrin-associated periodic syndrome (CAPS) are rare and often involve genes related to the inflammasome. Here, the authors report a syndrome characterised by systemic inflammation and cold-induced urticarial rash associated with a Factor XII-activating mutation.
format	article
author	Jörg Scheffel Niklas A. Mahnke Zonne L. M. Hofman Steven de Maat Jim Wu Hanna Bonnekoh Reuben J. Pengelly Sarah Ennis John W. Holloway Marieluise Kirchner Philipp Mertins Martin K. Church Marcus Maurer Coen Maas Karoline Krause
author_facet	Jörg Scheffel Niklas A. Mahnke Zonne L. M. Hofman Steven de Maat Jim Wu Hanna Bonnekoh Reuben J. Pengelly Sarah Ennis John W. Holloway Marieluise Kirchner Philipp Mertins Martin K. Church Marcus Maurer Coen Maas Karoline Krause
author_sort	Jörg Scheffel
title	Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
title_short	Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
title_full	Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
title_fullStr	Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
title_full_unstemmed	Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
title_sort	cold-induced urticarial autoinflammatory syndrome related to factor xii activation
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/e98d9cd321e045eeb259cd21cfaa4555
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Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

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