Article
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.
Nature communications - 10 Jan 2020
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
Abstract excerpt
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 inheritance. Genetic studies identify a substitution mutation in gene F12 (T859A, resulting in p.W268R) which encodes...
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