Benjamin Terrier

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 identifies on-treatment biomarkers in TB patients by integrating immunomonitoring assays with PET/CT scans, showing significant cytokine changes and machine learning-based biomarkers for treatment response.

This study investigates how UBA1 mutations in VEXAS syndrome lead to monocyte dysfunction and inflammation through RIPK1-mediated cell death and impaired NF-κB signaling.

This study investigates VEXAS anemia, showing that UBA1 mutations affect erythroblast differentiation but not mature red cells, leading to a mosaic erythroblastopenia.

This study uses single-cell multi-omics to map genotype-to-phenotype relationships in VEXAS syndrome, identifying PERK pathway activation as a therapeutic target.

This study identifies genetic subsets of EGPA associated with asthma and eosinophil levels, revealing two distinct clinical and genetic syndromes.