Xavier Mariette A

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

The paper develops a molecular interaction map of Sjogren's disease using transcriptomic data and literature, integrating pathway analysis and experimental data for therapeutic insights.

This study shows that stopping Type I JAK inhibitors leads to a temporary pro-inflammatory response, which may explain some cardiac issues linked to JAK inhibitor use.

The paper identifies five SNPs in the DDX6-CXCR5 locus associated with autoimmune diseases and shows their functional effects on gene regulation in immune and epithelial cells.

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.