Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins

Haemophilia ◽  
2018 ◽  
Vol 24 (5) ◽  
pp. 774-785 ◽  
Author(s):  
Satomi Nagaya ◽  
Masashi Akiyama ◽  
Morika Murakami ◽  
Akiko Sekiya ◽  
Hidesaku Asakura ◽  
...  
1974 ◽  
Vol 31 (01) ◽  
pp. 040-051 ◽  
Author(s):  
Gustav Gaudernack ◽  
Åse Gladhaug Berre ◽  
Bjarne Østerud ◽  
Hans Prydz

SummaryMonospecific antisera against the human coagulation factor X have been raised in rabbits by injections of purified antigen. Such antiserum was used to study the cross-reacting material without factor X activity which is present in the blood of warfarin-treated patients and animals as well as to study the changes in factor X during coagulation. One patient with congenital factor X deficiency was also studied.A complete identity was found between factor X in Macaca mulatta and human blood. During warfarin treatment antigenically cross-reacting material appeared in plasma. This was not adsorbed on BaSO4, and inhibited the coagulation activity of normal factor X.Both this material, normal factor X and the cross-reacting material in plasma from a patient congenitally deficient in factor X gave rise to split products during coagulation by the intrinsic pathway, i. e. all of them served as substrates for the intrinsic activator of factor X.


2016 ◽  
Vol 55 ◽  
pp. 149-158 ◽  
Author(s):  
Abirami Arasu ◽  
Venkatesh Kumaresan ◽  
Akila Sathyamoorthi ◽  
Mariadhas Valan Arasu ◽  
Naif Abdullah Al-Dhabi ◽  
...  

2019 ◽  
Vol 87 (5) ◽  
Author(s):  
Jacob E. Choby ◽  
Andrew J. Monteith ◽  
Lauren E. Himmel ◽  
Paris Margaritis ◽  
Jana K. Shirey-Rice ◽  
...  

ABSTRACTCoagulation and inflammation are interconnected, suggesting that coagulation plays a key role in the inflammatory response to pathogens. A phenome-wide association study (PheWAS) was used to identify clinical phenotypes of patients with a polymorphism in coagulation factor X. Patients with this single nucleotide polymorphism (SNP) were more likely to be hospitalized with hemostatic and infection-related disorders, suggesting that factor X contributes to the immune response to infection. To investigate this, we modeled infections by human pathogens in a mouse model of factor X deficiency. Factor X-deficient mice were protected from systemicAcinetobacter baumanniiinfection, suggesting that factor X plays a role in the immune response toA. baumannii. Factor X deficiency was associated with reduced cytokine and chemokine production and alterations in immune cell population during infection: factor X-deficient mice demonstrated increased abundance of neutrophils, macrophages, and effector T cells. Together, these results suggest that factor X activity is associated with an inefficient immune response and contributes to the pathology ofA. baumanniiinfection.


PEDIATRICS ◽  
1969 ◽  
Vol 44 (6) ◽  
pp. 1007-1009
Author(s):  
William L. Bayer ◽  
Dario Curiel C. ◽  
Isabel L. F. Szeto ◽  
Jessica H. Lewis

A Negro boy suffering from severe hemorrhagic disease associated with a single acquired defect in coagulation factor X is presented. No cause for this deficiency could be found. Vitamin K1 had no effect. He improved spontaneously and is completely healthy 6 months later.


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