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A case of thrombomodulin mutation causing defective thrombin binding with absence of protein C and TAFI activation


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Title: A case of thrombomodulin mutation causing defective thrombin binding with absence of protein C and TAFI activation
Authors: Okada, Masahiko / Tominaga, Norio / Honda, Goichi / Nishioka, Junji / Akita, Nobuyuki / Hayashi, Tatsuya / Suzuki, Koji / Moriuchi, Hiroyuki
Issue Date: 23-Jun-2020
Publisher: American Society of Hematology
Citation: Blood advances, 4(12), pp.2631-2639; 2020
Abstract: Thrombomodulin functions as an anticoagulant through thrombin binding and protein C activation. We herein report the first case of hereditary functional thrombomodulin deficiency presenting with recurrent subcutaneous hemorrhage and old cerebral infarction. The patient had a homozygous substitution of glycine by aspartate at amino acid residue 412 (Gly412Asp) in the thrombin-binding domain of the thrombomodulin gene (designated thrombomodulin-Nagasaki). In vitro assays using a recombinant thrombomodulin with the same mutation as the patient showed a total lack of thrombin binding and activation of protein C and thrombin-activatable fibrinolysis inhibitor (TAFI). Marked clinical and laboratory improvement was obtained with recombinant human soluble thrombomodulin therapy.
URI: http://hdl.handle.net/10069/40103
ISSN: 24739529
DOI: 10.1182/bloodadvances.2019001155
Rights: © 2020 by The American Society of Hematology
Type: Journal Article
Text Version: publisher
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/40103

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