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Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

J Exp Med (2026) 223 (10): e20252038.

https://doi.org/10.1084/jem.20252038

Published: 04 September 2026

View article titled, Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

Includes: Supplementary data

Journal Articles

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

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

J Exp Med (2023) 220 (6): e20221020.

https://doi.org/10.1084/jem.20221020

Published: 21 March 2023

View article titled, Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Includes: Supplementary data

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Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

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

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

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Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

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

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

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