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A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.
Hofman ZLM, Clark CC, Sanrattana W, Nosairi A, Parr NMJ, Živkovic M, Krause K, Mahnke NA, Scheffel J, Hack CE, Maurer M, de Maat S, Maas C. Hofman ZLM, et al. Among authors: mahnke na. J Biol Chem. 2020 Jan 10;295(2):363-374. doi: 10.1074/jbc.RA119.009788. Epub 2019 Nov 26. J Biol Chem. 2020. PMID: 31771982 Free PMC article.
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.
Scheffel J, Mahnke NA, Hofman ZLM, Maat S, Wu J, Bonnekoh H, Pengelly RJ, Ennis S, Holloway JW, Kirchner M, Mertins P, Church MK, Maurer M, Maas C, Krause K. Scheffel J, et al. Among authors: mahnke na. Nat Commun. 2020 Jan 10;11(1):179. doi: 10.1038/s41467-019-13984-8. Nat Commun. 2020. PMID: 31924766 Free PMC article.
Topical inflammasome inhibition with disulfiram prevents irritant contact dermatitis.
Bonnekoh H, Vera C, Abad-Perez A, Radetzki S, Neuenschwander M, Specker E, Mahnke NA, Frischbutter S, Latz E, Nazaré M, Kries JV, Maurer M, Scheffel J, Krause K. Bonnekoh H, et al. Among authors: mahnke na. Clin Transl Allergy. 2021 Jul 22;11(5):e12045. doi: 10.1002/clt2.12045. eCollection 2021 Jul. Clin Transl Allergy. 2021. PMID: 34322217 Free PMC article.