Linda Hiraki

Autoantibodies to the Sodium/Potassium Pump Alpha-1 Subunit AT1A1 Identify At-Risk Pregnancies That Will Develop Fetal/Congenital Heart Block: Evidence and Translational Plan

Objectives Autoimmune congenital heart block (CHB) has been associated with maternal autoimmune disease for a century, particularly in lupus and Sjögren’s disease pregnancies. Although 80+% of affected pregnancies are anti-Ro positive, CHB develops in only 1 in 50 such pregnancie...

Cryptic NLRP3 Mosaicism Uncovered by Deep Sequencing in Muckle-Wells Syndrome: A Case Report

Background Muckle-Wells syndrome is part of the cryopyrin-associated periodic syndrome (CAPS) family, a group of rare autoinflammatory conditions caused by gain-of-function variants in the NLRP3 gene, leading to uncontrolled activation of the inflammasome and excessive IL-1β rele...