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A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.

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第一作者： Zonne L M,Hofman

第一单位： Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands; Laboratory for Translational Immunology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.

作者： Zonne L M,Hofman ^[1] ; Chantal C,Clark ^[2] ; Wariya,Sanrattana ^[2] ; Aziz,Nosairi ^[2] ; Naomi M J,Parr ^[2] ; Minka,Živkovic ^[2] ; Karoline,Krause ^[3] ; Niklas A,Mahnke ^[3] ; Jörg,Scheffel ^[3] ; C Erik,Hack ^[4] ; Marcus,Maurer ^[3] ; Steven,de Maat ^[2] ; Coen,Maas ^[5]

作者单位： Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands; Laboratory for Translational Immunology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands. ^[1] Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands. ^[2] Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany. ^[3] Laboratory for Translational Immunology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands. ^[4] Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands. Electronic address: cmaas4@umcutrecht.nl. ^[5]

关键词 autoinflammatory syndrome bradykinin coagulation factor enzyme mutation factor XII hereditary angioedema inflammation kringle domain serine protease vascular biology