Ps1485 Trametinib Restores Immune Tolerance in Itp Patients by Modulating Irf4‐mediated Th1 and Treg Cells

Abstract

Background: Inherited thrombotic thrombocytopenic purpura (iTTP) is a rare autosomal recessive genetic disease caused by mutations in the ADAMTS13 gene, including homozygous and heterozygous gene mutations. The annual incidence of this genetic disease is less than 1/1000000, and women are more common which the incidence rate is about twice that of men. Five signs and symptoms of iTTP are thrombocytopenia, micro-angiopathic hemolytic anemia, renal failure, fever and neurologic deficits, which caused by the combination of genetic factors and environmental factors which mainly contain pregnancy and infection. Plasma ADAMTS13 activity and ADAMTS13 gene sequencing can be tested in the laboratory, and the plasma ADAMTS13 activity <10% is a diagnostic criteria in the guidelines. About 80 mutations in the ADAMTS13 gene have been identified, including missense mutations, nonsense mutations, deletions or insertion mutations.