Article
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.
The Journal of experimental medicine - 3 Aug 2026
Olguín Calderón Diana, Kilpatrick Laura E, Conil Clément, Philippot Quentin, Ogishi Masato, Vellutini Joseph, Han Ji Eun, Keating Narelle, Li Hailun, Rao Geetha, Bohlen Jonathan, Lay Charles S, Platt Simon, Kerner Gaspard, Feredj Elsa, Peel Jessica N, Momenilandi Mana, Seeleuthner Yoann, Lainé Candice, Soudée Camille, Leloup Claire, Debuisson Cecile, Lanternier Fanny, Bitoun Samuel, Pavy Stephan, Mariette Xavier, Rafik Aniss, Skhoun Hanaa, El Ouazzani Hanane, Abderahmani-Ghorfi Ismael, El-Baghdadi Jamila, Baena Andrés, Tejada-Giraldo Manuela, Barrera Luis Fernando, Arias Andrés Augusto, Fabio Giovanna, Carrabba Maria, Emiroglu Melike, Bezrodnik Liliana, El Zein Loubna, Hammoud Hassan, Gregersen Peter K, Terrier Benjamin, Leon Lopez Rafael, Touzet Marion, Pestre Vincent, Pasquet Marlène, Rogge Lars, Fayon Michael, Galode François, Jeziorski Eric, Duffy Darragh, Quintana-Murci Lluis, Patin Etienne, Cunningham-Rundles Charlotte, Meyts Isabelle, Zhang Shen-Ying, Zhang Qian, Jouanguy Emmanuelle, Boisson Bertrand, Rosain Jérémie, Béziat Vivien, Shahrooei Mohammad, Mahdaviani Seyed Alireza, Rezaei Nima, Parvaneh Nima, Chavoshzadeh Zahra, Yazdanpanah Niloufar, Aladjidi Nathalie, Noguera-Julian Antoni, Esteve-Solé Ana, Alsina Laia, Mansouri Davood, Keles Sevgi, Ortakoylu Mediha Gonenc, Aygun Deniz, Yucel Esra, Kiykim Ayca, Camcioglu Yildiz, Ma Cindy S, Tangye Stuart G, Zhang Peng, Abel Laurent, Craggs Peter D, Casanova Jean-Laurent, Cobat Aurélie, Puel Anne, Bustamante Jacinta, Hill Stephen J, Boisson-Dupuis Stéphanie
Abstract excerpt
Homozygosity for rare loss-of-function IL23R variants abolishes IL-23-dependent IFN-γ production by lymphocytes, including NK and innate-like T cells, thereby underlying clinical disease due to weakly virulent mycobacterial species. We report selective enrichment in homozygosity for four hypomorphic IL23R variants in our cohort of patients with tuberculosis. Three of these IL23R alleles are rare (G300V, G149R,...
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