Miguel Blanquer

A New Gain-of-Function NLRP1 Variant Is Associated with Inflammasome Activation and Disease Severity in SLC25A38 Congenital Sideroblastic Anemia Case Report

Inflammasomes play a pivotal role in inflammation and infection, but the clinical relevance of inflammasomes goes beyond infectious disease. Here, we report a novel variant in the NLRP1 gene (p.V939M) identified in a patient with congenital sideroblastic anemia due to a homozygous SLC25A38 mutation. This patient exhibi...