Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis
Diana Olguín-Calderón, Laura E. Kilpatrick, Clément Conil, Quentin Philippot, Masato Ogishi, Joseph Vellutini, Ji Eun Han, Narelle Keating, Hailun Li, Geetha Rao, Jonathan Bohlen, Charles S. Lay, Simon Platt, Gaspard Kerner, Elsa Feredj, , Stéphanie Boisson‐Dupuis
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 Journal of Experimental Medicine · Jul 9, 2026Peer-reviewedGenetics✦ In-depth digest