posted on 2020-01-14, 13:13authored byJörg Scheffel, Niklas Amadeus 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
In the accompanying paper, an autosomal dominant disease characterized by cold-induced urticarial rash and systemic inflammation is described. The disease is associated with a mutation in the human coagulation Factor 12 gene (F12), and the term FXII-associated cold autoinflammatory syndrome (FACAS) is proposed to denote it. Functional studies show autocatalytic cleavage of FXII and profound activation of the contact system linked to IL-1ß-mediated inflammation.
The dataset presented here contains source data and images that underlie the main and supplementary figures included in the accompanying paper. Data are provided as a combination of Excel XLSX files, images with labelling prepared in PowerPoint (PPTX files) and a TIF image.
Figure 2
fig2a.pptx - Immunoblot gel image underlying Figure 2a.
fig2b.pptx - Immunoblot gel image underlying Figure 2b.
fig2c MassSpec raw data - FXII peptides in gel.xlsx - Raw mass spectrometry data from excised gel fragments, underlying Figure 2c.
fig2d FXIIa Chromogenic.xlsx - Results of the chromogenic assay underlying Figure 2d.
fig2e FXIIa Chromogenic.xlsx - Results of the chromogenic assay underlying Figure 2e.