PLD4 Mutations Linked to Systemic Lupus Erythematosus
Originally Published 4 months ago — by Nature
Loss-of-function mutations in the PLD4 gene are linked to systemic lupus erythematosus (SLE), with affected patients showing immune dysregulation characterized by overactivation of the type I interferon pathway, impaired exonuclease activity of PLD4, and increased activation of TLR7/9 pathways, leading to autoimmune manifestations. Mouse models confirm the role of PLD4 deficiency in autoimmunity, and JAK inhibitors like baricitinib show therapeutic potential by reducing inflammation and autoantibody levels.