Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

Hereditary autoinflammatory diseases are caused by gene mutations of the innate immune pathway, e.g. nucleotide receptor protein 3 (NLRP3). Here, we report a four-generation family with cold-induced urticarial rash, arthralgia, chills, headache and malaise associated with an autosomal-dominant inher...

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Detalles Bibliográficos
Autores principales: Scheffel, Jörg, Mahnke, Niklas A., Hofman, Zonne L. M., Maat, Steven de, Wu, Jim, Bonnekoh, Hanna, Pengelly, Reuben J., Ennis, Sarah, Holloway, John W., Kirchner, Marieluise, Mertins, Philipp, Church, Martin K., Maurer, Marcus, Maas, Coen, Krause, Karoline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954242/
https://www.ncbi.nlm.nih.gov/pubmed/31924766
http://dx.doi.org/10.1038/s41467-019-13984-8

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