Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura.
Malay Kumar BasuFelipe MassicanoLijia YuKonstantine HalkidisVikram PillaiWenjing CaoLiang ZhengX Long ZhengPublished in: Thrombosis and haemostasis (2020)
Altered glycosylation may affect the disease onset and progression in various ways: it may predispose patients to produce ADAMTS13 autoantibodies or affect their binding properties; it may also alter clearance kinetics of hemostatic and inflammatory proteins. Together, our findings provide novel insights into plausible mechanisms underlying the pathogenesis of iTTP.