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Originalarbeiten, Bücher, Buchkapitel und Übersichtsartikel von Prof. Marcus Maurer
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Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
Filename | 370. Scheffel et al., Cold-induced FXII, NatCommun2020.pdf |
Filesize | 4,41 MB |
Version | o.370 |
Date added | Juni 5, 2020 |
Downloaded | 2 times |
Category | Original Work |
Authors | Scheffel, J., Mahnke, N. A., Hofman, Z. L. M., de Maat, S., Wu, J., Bonnekoh, H., Pengelly, R. J., Ennis, S., Holloway, J. W., Church, M. K., Maurer, M., Maas, C., and Krause, K. |
Citation | Scheffel, J., Mahnke, N. A., Hofman, Z. L. M., de Maat, S., Wu, J., Bonnekoh, H., Pengelly, R. J., Ennis, S., Holloway, J. W., Church, M. K., Maurer, M., Maas, C., and Krause, K.: Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. Nat. Commun. 2020: 11; 179. |
Corresponding authors | Maurer, M. |
DocNum | o.370 |
DocType | |
Edition; Page | 11; 179 |
IF | 14.92 |
Publisher | Nat. Commun. |
ReleaseDate | 2020 |
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 coagulation factor XII (FXII). Functional analysis reveals enhanced autocatalytic cleavage of the mutated protein and spontaneous FXII
activation in patient plasma and in supernatant of transfected HEK293 cells expressing recombinant W268R-mutated proteins. Furthermore, we observe reduced plasma prekallikrein, cleaved high molecular weight kininogen and elevated plasma bradykinin. Neutrophils are identified as a local source of FXII. Interleukin-1β (IL-1β) is upregulated in lesional skin and mononuclear donor cells exposed to recombinant mutant proteins. Treatment with icatibant (bradykinin-B2-antagonist) or anakinra (interleukin-1-antagonist) reduces disease activity in patients. In conclusion, our findings provide a link between contact system activation and cytokine-mediated inflammation.
(Last update: 05.2024)
Number of original publications in peer-reviewed journals: | 599 |
Number of reviews in peer-reviewed journals: | 217 |
Number of publications (original work and reviews) in peer-reviewed journals: | 816 |
Cumulative IF for original publications in peer-reviewed journals: | 4346.09 |
Cumulative IF for reviews in peer-reviewed journals: | 1699.02 |
Cumulative IF of publications (original work & reviews) in peer-reviewed journals: | 6060.11 |
Total number of citations: 36,239, h-index: 98 (Web of Science May 2024) | 36239 |
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