Core Insights - Systemic lupus erythematosus (SLE) is a common chronic autoimmune disease with a complex pathogenesis, and a defect in the human single gene (PLD4) has been confirmed by Chinese scientists as a cause of SLE, providing important theoretical basis for precise diagnosis and treatment [1][2] Group 1 - The research team identified mutations in the PLD4 gene in five patients with lupus nephritis through whole-exome sequencing, indicating that this gene is present in dendritic cells, B cells, and monocytes, and the mutations are inherited in a recessive manner [1] - The study highlights the heterogeneity of SLE, with significant individual differences in clinical symptoms and genetic mechanisms, posing challenges to understanding its pathogenesis [1] Group 2 - The research further revealed that the PLD4 gene mutation triggers a pathogenic mechanism of chronic inflammation and autoimmunity, and experiments on mice confirmed that certain targeted therapies, such as JAK inhibitors, can significantly alleviate symptoms in mice with the defect [2] - This finding offers potential precision treatment strategies for SLE patients carrying the PLD4 mutation and provides a crucial basis for future individualized treatment based on genetic typing [2]