Exome Sequencing Identifies Glycosylation Defects as a Probable Cause of Immune-Mediated Thrombotic Thrombocytopenic Purpura

Background: Immune thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal syndrome, resulting primarily from autoantibodies against ADAMTS13. However, the mechanism underlying the autoantibody formation and the contribution of other genomic alterations to the pathogenesis of iTTP are largely unknown.