Article
Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.
Science immunology - 17 Feb 2023
Philippot Quentin, Ogishi Masato, Bohlen Jonathan, Puchan Julia, Arias Andrés Augusto, Nguyen Tina, Martin-Fernandez Marta, Conil Clement, Rinchai Darawan, Momenilandi Mana, Mahdaviani Seyed Alireza, Keramatipour Mohammad, Rosain Jérémie, Yang Rui, Khan Taushif, Neehus Anna-Lena, Materna Marie, Han Ji Eun, Peel Jessica, Mele Federico, Weisshaar Marc, Jovic Sandra, Bastard Paul, Lévy Romain, Le Voyer Tom, Zhang Peng, Maglorius Renkilaraj Majistor Raj Luxman, Arango-Franco Carlos A, Pelham Simon, Seeleuthner Yoann, Pochon Mathieu, Ata Manar Mahmoud Ahmad, Al Ali Fatima, Migaud Mélanie, Soudée Camille, Kochetkov Tatiana, Molitor Anne, Carapito Raphael, Bahram Seiamak, Boisson Bertrand, Fieschi Claire, Mansouri Davood, Marr Nico, Okada Satoshi, Shahrooei Mohammad, Parvaneh Nima, Chavoshzadeh Zahra, Cobat Aurélie, Bogunovic Dusan, Abel Laurent, Tangye Stuart G, Ma Cindy S, Béziat Vivien, Sallusto Federica, Boisson-Dupuis Stéphanie, Bustamante Jacinta, Casanova Jean-Laurent, Puel Anne
Abstract excerpt
Patients with autosomal recessive (AR) IL-12p40 or IL-12Rβ1 deficiency display Mendelian susceptibility to mycobacterial disease (MSMD) due to impaired IFN-γ production and, less commonly, chronic mucocutaneous candidiasis (CMC) due to impaired IL-17A/F production. We report six patients from four kindreds with AR IL-23R deficiency. These patients are homozygous for one of four different loss-of-function IL23R...
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