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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, Jessica N. Peel, Mana Momenilandi, Yoann Seeleuthner, Candice Lainé, Camille Soudée, Claire Leloup, Cecile Debuisson, Fanny Lanternier, Samuel Bitoun, Stephan Pavy, Xavier Mariette, Aniss Rafik, Hanaa Skhoun, Hanane El Ouazzani, Ismael Abderahmani-Ghorfi, Jamila El-Baghdadi, Andrés Baena, Manuela Tejada-Giraldo, Luis Fernando Barrera, Andrés Augusto Arias, Giovanna Fabio, Maria Carrabba, Melike Emiroglu, Liliana Bezrodnik, Loubna El Zein, Hassan Hammoud, Peter K. Gregersen, Benjamin Terrier, Rafael Leon Lopez, Marion Touzet, Vincent Pestre, Marlène Pasquet, Lars Rogge, Michael Fayon, François Galode, Eric Jeziorski, Darragh Duffy, Lluis Quintana-Murci, Etienne Patin, Charlotte Cunningham-Rundles, Isabelle Meyts, Shen-Ying Zhang, Qian Zhang, Emmanuelle Jouanguy, Bertrand Boisson, Jérémie Rosain, Vivien Béziat, Mohammad Shahrooei, Seyed Alireza Mahdaviani, Nima Rezaei, Nima Parvaneh, Zahra Chavoshzadeh, Niloufar Yazdanpanah, Nathalie Aladjidi, Antoni Noguera-Julian, Ana Esteve-Solé, Laia Alsina, Davood Mansouri, Sevgi Keles, Mediha Gonenc Ortakoylu, Deniz Aygun, Esra Yucel, Ayca Kiykim, Yildiz Camcioglu, Cindy S. Ma, Stuart G. Tangye, Peng Zhang, Laurent Abel, Peter D. Craggs, Jean-Laurent Casanova, Aurélie Cobat, Anne Puel, Jacinta Bustamante, Stephen J. Hill, Stéphanie Boisson-Dupuis

J Exp Med (2026) 223 (8): e20252236.

https://doi.org/10.1084/jem.20252236

Published: 09 July 2026

View article titled, Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Includes: Supplementary data

Journal Articles

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

In Special Collection:

Genes and Immunity

Evangelos Bellos, Dilys Santillo, Pierre Vantourout, Heather R. Jackson, Amedine Duret, Henry Hearn, Yoann Seeleuthner, Estelle Talouarn, Stephanie Hodeib, Harsita Patel, Oliver Powell, Sophya Yeoh, Sobia Mustafa, Dominic Habgood-Coote, Samuel Nichols, Leire Estramiana Elorrieta, Giselle D’Souza, Victoria J. Wright, Diego Estrada-Rivadeneyra, Adriana H. Tremoulet, Kirsten B. Dummer, Stejara A. Netea, Antonio Condino-Neto, Yu Lung Lau, Esmeralda Núñez Cuadros, Julie Toubiana, Marisol Holanda Pena, Frédéric Rieux-Laucat, Charles-Edouard Luyt, Filomeen Haerynck, Jean Louis Mège, Samya Chakravorty, Elie Haddad, Marie-Paule Morin, Özge Metin Akcan, Sevgi Keles, Melike Emiroglu, Gulsum Alkan, Sadiye Kübra Tüter Öz, Sefika Elmas Bozdemir, Guillaume Morelle, Alla Volokha, Yasemin Kendir-Demirkol, Betul Sözeri, Taner Coskuner, Aysun Yahsi, Belgin Gulhan, Saliha Kanik-Yuksek, Gulsum Iclal Bayhan, Aslinur Ozkaya-Parlakay, Osman Yesilbas, Nevin Hatipoglu, Tayfun Ozcelik, Alexandre Belot, Emilie Chopin, Vincent Barlogis, Esra Sevketoglu, Emin Menentoglu, Zeynep Gokce Gayretli Aydin, Marketa Bloomfield, Suzan A. AlKhater, Cyril Cyrus, Yuriy Stepanovskiy, Anastasiia Bondarenko, Fatma Nur Öz, Meltem Polat, Jiří Fremuth, Jan Lebl, Amyrath Geraldo, Emmanuelle Jouanguy, COVID-19 Human Genetic Effort, DIAMONDS, EUCLIDS, Michael J. Carter, Paul Wellman, Mark Peters, Rebeca Pérez de Diego, Lindsey Ann Edwards, Christopher Chiu, Mahdad Noursadeghi, Alexandre Bolze, Chisato Shimizu, Myrsini Kaforou, Melissa Shea Hamilton, Jethro A. Herberg, Erica G. Schmitt, Agusti Rodriguez-Palmero, Aurora Pujol, Jihoon Kim, Aurélie Cobat, Laurent Abel, Shen-Ying Zhang, Jean-Laurent Casanova, Taco W. Kuijpers, Jane C. Burns, Michael Levin, Adrian C. Hayday, Vanessa Sancho-Shimizu

J Exp Med (2024) 221 (12): e920240699.

https://doi.org/10.1084/jem.20240699

Published: 22 November 2024

View article titled, Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Includes: Supplementary data

Journal Articles

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

In Special Collection:

Thymus, T Cell Development, and Inborn Errors

J Exp Med (2022) 220 (1): e20220484.

https://doi.org/10.1084/jem.20220484

Published: 03 November 2022

View article titled, Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

Includes: Supplementary data

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Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

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Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

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