Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

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
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Acceso en línea:https://doaj.org/article/e98d9cd321e045eeb259cd21cfaa4555
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Sumario: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.

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