Genetic Variants in ADAMTS13 in Patients with Acquired TTP (aTTP).

PAIVA J; CASINELLI MM; KINEN A; WOODS AI;; SÁNCHEZ-LUCEROS

Milan

Congreso; Congreso Internacional; 2020

ISTH

p.Val195Ile and p.Pro952Ser were predicted as deleterious in 54.5% and 81.8% of in-silico tools, respectively. p.Arg1096His was predicted as neutral by 100% of in-silico tools, but decreased stability of the protein. It has been described as polymorphism (rs61751476) and as like benign GV in clinical database (ClinVar and VarSome), and also associated with a reduction in functional activity by 50%.The finding of heterozygous GV in these patients could suggest that their presence would be associated with changes in specific epitopes in domains of ADAMTS13 to develop of neutralizing ADAMTS13-inhibitor (P1), IgM (P2), IgG (P3, P4), IgA (P5). Further studies and patients are needed to confirm this relationship.