Liva Pfuhler

How Rare is Rare? TNFAIP3 Variants and the High Collective Burden of Haploinsufficiency

The paper identifies common hypomorphic TNFAIP3 variants associated with immune dysregulation and underdiagnosed haploinsufficiency diseases, suggesting widespread underrecognition of these conditions.

Macrophages drive a fibrogenic gene program of periductal fibroblasts in pediatric primary sclerosing cholangitis

This study identifies macrophage-driven fibrotic gene programs in periductal fibroblasts of PSC using multi-omics data, highlighting potential therapeutic targets.

Cholestasis alters polarization and suppressor function of hepatic regulatory T cells.

This study shows cholestasis shifts hepatic Tregs to a Th17 phenotype and impairs their suppressor function, with bile acid levels influencing Treg activity and liver injury.