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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

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

In Special Collection:

Genes and Immunity

J Exp Med (2024) 221 (10): e20231562.

https://doi.org/10.1084/jem.20231562

Published: 30 August 2024

View article titled, RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

Includes: Supplementary data

Journal Articles

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

In Special Collection:

Autoimmunity 2024

J Exp Med (2024) 221 (9): e20232337.

https://doi.org/10.1084/jem.20232337

Published: 19 July 2024

View article titled, Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

Includes: Supplementary data

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

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

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

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus

Email alerts

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