Article
Multidisciplinary Sciences
Heike Kroeger, Julia M. D. Grandjean, Wei-Chieh Jerry Chiang, Daphne D. Bindels, Rebecca Mastey, Jennifer Okalova, Amanda Nguyen, Evan T. Powers, Jeffery W. Kelly, Neil J. Grimsey, Michel Michaelides, Joseph Carroll, R. Luke Wiseman, Jonathan H. Lin
Summary: ER stress and UPR signaling contribute to human diseases, including severe congenital vision loss conditions like achromatopsia. Loss-of-function ATF6 variants lead to defective cone formation in the retina, highlighting the essential role of ATF6 in human cone development. Pharmacologic targeting of the ATF6 pathway may hold potential for treating blinding retinal diseases.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Plant Sciences
Debamalya Chatterjee, Kameron Wittmeyer, Tzuu-Fen Lee, Jin Cui, Neela H. Yennawar, Hemant P. Yennawar, Blake C. Meyers, Surinder Chopra
Summary: The mutation of the ufo1 gene in maize affects sugars, hormones, and basal endosperm transfer layer development. Specifically, Ufo1-1 mutation results in abnormal transfer cell shape, while ufo1-Dsg mutation shows reduced cell size and abnormal wall ingrowth in the BETL.
Review
Cell Biology
Weiyin Wu, Xiangjun Kong, Yanhan Jia, Yihui Jia, Weimei Ou, Cuilian Dai, Gang Li, Rui Gao
Summary: This article summarizes the important roles of PAX1 in embryonic development and diseases, particularly its expression and functions in skeletal system and thymus development, as well as its emerging role in cancers. The article also discusses the cellular and molecular modes of action of PAX1 and explores the association of PAX1 mutation or dysregulation with human diseases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Takataro Fukuhara, Yoshihiro Ueda, Sung-Il Lee, Tokifumi Odaka, Shinsuke Nakajima, Jun-Ichi Fujisawa, Kazu Okuma, Makoto Naganuma, Kazuichi Okazaki, Naoyuki Kondo, Yuji Kamioka, Mitsuru Matsumoto, Tatsuo Kinashi
Summary: In humanized mice, immunization leads to an increase in HLA-DR+ cells, including CD205(+) dendritic cells, which promotes HLA-restricted thymocyte expansion. This finding offers a unique opportunity to generate humanized mice with ease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Christopher M. Richards, Sabrina Jabs, Wenjie Qiao, Lauren D. Varanese, Michaela Schweizer, Peter R. Mosen, Nicholas M. Riley, Malte Klussendorf, James R. Zengel, Ryan A. Flynn, Arjun Rustagi, John C. Widen, Christine E. Peters, Yaw Shin Ooi, Xuping Xie, Pei-Yong Shi, Ralf Bartenschlager, Andreas S. Puschnik, Matthew Bogyo, Carolyn R. Bertozzi, Catherine A. Blish, Dominic Winter, Claude M. Nagamine, Thomas Braulke, Jan E. Carette
Summary: LYSET is a critical factor in the M6P trafficking machinery of cells, and mutations in LYSET can explain the phenotype of the associated disorder.
Article
Immunology
Yu Gao, Ruining Liu, Chenfei He, Juan Basile, Mattias Vesterlund, Marie Wahren-Herlenius, Alexander Espinoza, Cassandra Hokka-Zakrisson, Fahad Zadjali, Akihiko Yoshimura, Mikael Karlsson, Berit Carow, Martin E. Rottenberg
Summary: SOCS3 is a critical regulator of immune responses and inflammation, with its expression in thymic stromal cells being essential for T cell development and maintenance of thymus architecture. The inhibition of SOCS3 led to impaired thymocyte differentiation, proliferation, and increased apoptosis at different cell stages, ultimately affecting the generation of recent thymic emigrants in peripheral organs. The interaction between SOCS3 in thymic epithelial cells and TRIM 21 had significant implications for thymic cellularity and gene expression related to T cell selection and lympho-stromal interactions.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biology
Cyrrus M. Espino, Cheyanne M. Lewis, Serena Ortiz, Miloni S. Dalal, Snigdha Garlapalli, Kaylee M. Wells, Darik A. O'Neil, Katherine A. Wilkinson, Theanne N. Griffith
Summary: This study reveals the essential role of sodium channel Na(V)1.1 in mammalian proprioceptive signaling and behaviors. Genetic deletion of Na(V)1.1 in sensory neurons leads to impairment of proprioceptor function and motor behaviors, similar to what is observed in human patients with Na(V)1.1 loss-of-function mutations. These findings highlight the importance of sensory neuron dysfunction in the clinical manifestations of neurological disorders involving compromised Na(V)1.1 function.
Article
Cell Biology
Michaela Quintero, Siyang Liu, Yanhua Xia, Yonghong Huang, Yi Zou, Ge Li, Ling Hu, Nagendra Singh, Richard Blumberg, Yafei Cai, Hong Xu, Honglin Li
Summary: Cdk5rap3 plays a key role in the development and maintenance of Paneth cells in the intestine, with its deficiency leading to early embryonic lethality and increased susceptibility to colitis. The protein is highly expressed in mature Paneth cells and is crucial for the fate specification of these cells.
CELL DEATH & DISEASE
(2021)
Review
Immunology
Valentin P. Shichkin, Mariastefania Antica
Summary: The thymus is a complex organ consisting of different stromal cells and maturing T lymphocytes, and its function is mainly determined by the thymic stromal structure. Thymic epithelial cells and mesenchymal cells are the primary components of the thymus, playing a crucial role in T cell development and function. Understanding the signaling and transcriptional pathways underlying thymic cell interaction is essential for T cell differentiation and restoring thymic function after damage.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biology
Sayumi Fujimori, Izumi Ohigashi, Hayato Abe, Yosuke Matsushita, Toyomasa Katagiri, Makoto M. Taketo, Yousuke Takahama, Shinji Takada
Summary: The thymic epithelium plays a crucial role in supporting the development of T cells. This study found that enhanced expression of beta-catenin in thymic epithelial cells leads to thymic dysplasia and T cell deficiency in the embryonic period, while loss of beta-catenin function only slightly reduces cortical thymic epithelial cells and thymocytes in postnatal development.
Article
Plant Sciences
En Xie, Jiawei Chen, Bingxin Wang, Yi Shen, Ding Tang, Guijie Du, Yafei Li, Zhukuan Cheng
Summary: CRISPR/Cas9 system was used to knock out the transcribed gene OsMRPL15 in the centromeric region of rice chromosome 8, resulting in gametophyte sterility. Loss of OsMRPL15 led to abnormal accumulation of mitochondrial ribosomal proteins and large subunit rRNA in pollen mitochondria, as well as defective biosynthesis of several proteins in mitochondria and upregulation of mitochondrial gene expression at the mRNA level. The knock-out pollen exhibited reduced starch metabolism and increased amino acid biosynthesis.
Article
Cell Biology
Panagiota Giardoglou, Panos Deloukas, George Dedoussis, Dimitris Beis
Summary: Cardiovascular diseases are the leading cause of death globally and are influenced by both environmental and genetic factors. CFDP1 has been implicated in Coronary Artery Disease, and through zebrafish studies, it has been shown to play a crucial role in cardiac development, with potential clinical implications for humans.
Article
Multidisciplinary Sciences
Shirong Cao, Yu Pan, Andrew S. Terker, Juan Pablo Arroyo Ornelas, Yinqiu Wang, Jiaqi Tang, Aolei Niu, Sarah Abu Kar, Mengdi Jiang, Wentian Luo, Xinyu Dong, Xiaofeng Fan, Suwan Wang, Matthew H. Wilson, Agnes Fogo, Ming-Zhi Zhang, Raymond C. Harris
Summary: This study reveals that the expression of Epidermal Growth Factor Receptor (EGFR) increases in interstitial myofibroblasts in fibrotic kidneys. Selective deletion of EGFR in the fibroblast/pericyte population can inhibit interstitial fibrosis caused by ureteral obstruction, ischemia, or nephrotoxins.
NATURE COMMUNICATIONS
(2023)
Article
Plant Sciences
Imane Tagnaout, Hannou Zerkani, Nadia Hadi, Bouchra El Moumen, Fadoua El Makhoukhi, Mohamed Bouhrim, Rashad Al-Salahi, Fahd A. Nasr, Hamza Mechchate, Touriya Zair
Summary: This study investigated the essential oil chemical composition, antioxidant and antibacterial activities of Thymus capitatus and Thymus broussonnetii. The results showed that the essential oils of both thyme species were rich in oxygenated monoterpenes and exhibited strong antioxidant and antibacterial activities, making them suitable as natural antioxidants and antibacterial additives for food protection.
Article
Endocrinology & Metabolism
Jingwei Jiang, John J. Reho, Sajag Bhattarai, Ioana Cherascu, Adam Hedberg-Buenz, Kacie J. Meyer, Fariba Tayyari, Adam J. Rauckhorst, Deng Fu Guo, Donald A. Morgan, Eric B. Taylor, Michael G. Anderson, Arlene Drack, Kamal Rahmouni
Summary: The study demonstrates that deficiency of BBSome in endothelial cells leads to endothelial dysfunction, increased body weight, abnormal hepatic lipid metabolism, and structural and functional abnormalities in the retina.
MOLECULAR METABOLISM
(2021)
Article
Immunology
Keith Sacco, Hye Sun Kuehn, Tomoki Kawai, Nouf Alsaati, Lauren Smith, Blachy Davila, Vanessa Bundy, Douglas B. Kuhns, Kerry Dobbs, Ottavia Delmonte, Luigi D. Notarangelo, Sergio D. Rosenzweig, Michael D. Keller
Summary: This study describes a rare case of autoimmunity and autoinflammation caused by a heterozygous gain-of-function variant in the IKBKB gene. The variant is associated with impaired cell degradation and increased macrophage activation, providing important insights into a novel clinical phenotype.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Review
Allergy
Estefania Vasquez-Echeverri, Marco Antonio Yamazaki-Nakashimada, Edna Venegas Montoya, Selma Cecilia Scheffler Mendoza, Lina Maria Castano-Jaramillo, Edgar Alejandro Medina-Torres, Maria Edith Gonzalez-Serrano, Melissa Espinosa-Navarro, Juan Carlos Bustamante Ogando, Maria Guadalupe Gonzalez-Villarreal, Margarita Ortega Cisneros, Pedro Francisco Valencia Mayoral, Alejandra Consuelo Sanchez, Gustavo Varela-Fascinetto, Rosa Maria Nideshda Ramirez-Uribe, Yuridia Salazar Galvez, Laura Cecilia Bonifaz Alonzo, Ezequiel Moises Fuentes-Panana, Noemi Gomez Hernandez, Cesar Mauricio Rojas Maruri, Jean-Laurent Casanova, Sara Elva Espinosa-Padilla, Aide Tamara Staines Boone, Gabriel Lopez-Velazquez, Bertrand Boisson, Saul Oswaldo Lugo Reyes
Summary: This study describes the clinical, laboratory, and genetic features of six patients from four Mexican families with hereditary actin-related protein 2/3 complex subunit 1B deficiency. The results expand the clinical spectrum of the disease and suggest possible genetic causes.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2023)
Article
Medicine, General & Internal
Fabrice Cognasse, Hind Hamzeh-Cognasse, Mickael Rosa, Delphine Corseaux, Brigitte Bonneaudeau, Chloe Pierre, Julie Huet, Charles Antoine Arthaud, Marie Ange Eyraud, Amelie Prier, Anne Claire Duchez, Theo Ebermeyer, Marco Heestermans, Estelle Audoux-Caire, Quentin Philippot, Tom Le Voyer, Olivier Hequet, Anne-Marie Fillet, Patricia Chavarin, Dominique Legrand, Pascale Richard, France Pirenne, Pierre Gallian, Jean Laurent Casanova, Sophie Susen, Pascal Morel, Karine Lacombe, Paul Bastard, Pierre Tiberghien
Summary: COVID-19 convalescent plasma (CCP) contains neutralising antibodies that may be useful as passive immunotherapy. CCP showed increased levels of IL-6 and TNF-alpha and lower levels of IL-10 compared to control plasma. Auto-Antibodies against type I IFNs in CCP were not associated with reported adverse events. Further studies are needed to define the clinical relevance of these findings.
Article
Medicine, Research & Experimental
Amir Hossein Saeidian, Leila Youssefian, Mahtab Naji, Hamidreza Mahmoudi, Samantha M. Barnada, Charles Huang, Karim Naghipoor, Amir Hozhabrpour, Jason S. Park, Flavia Manzo Margiotta, Fatemeh Vahidnezhad, Zahra Saffarian, Kambiz Kamyab-Hesari, Mohammad Tolouei, Niloofar Faraji, Seyyede Zeinab Azimi, Ghazal Namdari, Parvin Mansouri, Jean-Laurent Casanova, Vivien Beziat, Emmanuelle Jouanguy, Jouni Uitto, Hassan Vahidnezhad
Summary: HPVs are DNA viruses classified into 5 genera, including approximately 450 types. In patients with an inborn error of immunity, some species of beta-HPVs can cause epidermodysplasia verruciformis (EV), characterized by stubborn cutaneous warts and skin cancer. This study identified new genetic mutations in TMC6, TMC8, and CIB1 genes and implicated new HPV subtypes in the development of typical EV.
Article
Cell Biology
Steicy Sobrino, Alessandra Magnani, Michaela Semeraro, Loredana Martignetti, Akira Cortal, Adeline Denis, Chloe Couzin, Capucine Picard, Jacinta Bustamante, Elisa Magrin, Laure Joseph, Cecile Roudaut, Aurelie Gabrion, Tayebeh Soheili, Corinne Cordier, Olivier Lortholary, Francois Lefrere, Frederic Rieux-Laucat, Jean-Laurent Casanova, Sylvain Bodard, Nathalie Boddaert, Adrian J. Thrasher, Fabien Touzot, Sophie Taque, Felipe Suarez, Ambroise Marcais, Agathe Guilloux, Chantal Lagresle-Peyrou, Anne Galy, Antonio Rausell, Stephane Blanche, Marina Cavazzana, Emmanuelle Six
Summary: X-linked chronic granulomatous disease (CGD) is a serious condition associated with defective phagocytosis, infections, and inflammatory complications. A clinical trial of lentivirus-based gene therapy was conducted on four patients, showing successful engraftment and clinical benefits in two patients, while the other two experienced loss of gene-corrected cells. Single-cell transcriptomic analysis revealed lower levels of hematopoietic stem cells (HSCs) in CGD patients, especially in those with poor engraftment. Aberrant HSC state and elevated interferon genes were identified as predictors of HSC engraftment failure.
CELL REPORTS MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Can Gollmann-Tepekoeylue, Michael Graber, Jakob Hirsch, Sophia Mair, Andreas Naschberger, Leo Poelzl, Felix Naegele, Elke Kirchmair, Gerald Degenhart, Egon Demetz, Richard Hilbe, Hao-Yu Chen, James C. Engert, Anna Boehm, Nadja Franz, Daniela Lobenwein, Daniela Lener, Christiane Fuchs, Anna Weihs, Sonja Toechterle, Georg F. Vogel, Victor Schweiger, Jonas Eder, Peter Pietschmann, Markus Seifert, Florian Kronenberg, Stefan Coassin, Michael Blumer, Hubert Hackl, Dirk Meyer, Gudrun Feuchtner, Rudolf Kirchmair, Jakob Troppmair, Markus Krane, Guenther Weiss, Sotirios Tsimikas, George Thanassoulis, Michael Grimm, Bernhard Rupp, Lukas A. Huber, Shen-Ying Zhang, Jean-Laurent Casanova, Ivan Tancevski, Johannes Holfeld
Summary: TLR3 is identified as a central molecular regulator of calcification in valvular interstitial cells, and BGN is revealed as a new endogenous agonist of TLR3. BGN activates TLR3 through XYLT1-dependent posttranslational modification and induces the transdifferentiation of valvular interstitial cells into bone-forming osteoblasts through TLR3-dependent induction of type I interferons.
Article
Immunology
Carlos A. Arango-Franco, Melanie Migaud, Isabel Cristina Ramirez-Sanchez, Karen Arango-Bustamante, Marcela Moncada-Velez, Julian Rojas, Adrian Gervais, Santiago Patino-Giraldo, Lizeth J. Perez-Zapata, Jesus A. Alvarez Alvareza, Julio Cesar Orrego, Gustavo Roncancio-Villamil, Stephanie Boisson-Dupuis, Emmanuelle Jouanguy, Laurent Abel, Jean-Laurent Casanova, Jacinta Bustamante, Andres A. Arias, Jose Luis Franco, Anne Puel
Summary: This study reports three Colombian patients with disseminated cryptococcosis associated with neutralizing auto-Abs against GM-CSF. Further studies should evaluate the genetic contribution to anti-GM-CSF autoantibody production and the role of the GM-CSF signaling pathway in the immune response to Cryptococcus spp.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Editorial Material
Immunology
Jean-Laurent Casanova, Lennart Hammarstrom
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Tiphaine Arlabosse, Marie Materna, Orbicia Riccio, Caroline Schnider, Federica Angelini, Matthieu Perreau, Isabelle Rochat, Andrea Superti-Furga, Belinda Campos-Xavier, Sebastien Heritier, Anais Pereira, Caroline Deswarte, Romain Levy, Marco Distefano, Jacinta Bustamante, Marie Roelens, Raphael Borie, Mathilde Le Brun, Bruno Crestani, Jean-Laurent Casanova, Anne Puel, Michael Hofer, Claire Fieschi, Katerina Theodoropoulou, Vivien Beziat, Fabio Candotti
Summary: Patients with autosomal dominant hyper-IgE syndrome suffer from various symptoms, such as recurrent infections, severe allergies, and skeletal abnormalities. The condition is usually caused by dominant-negative STAT3 variants. Recently, new dominant-negative IL6ST variants have been discovered in three unrelated families, with different biochemical and clinical impacts compared to previously reported variants.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Letter
Immunology
Lauren M. Gunderman, Takaki Asano, Jean-Laurent Casanova, Bertrand Boisson, Amer Khojah
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Ana Garcia-Garcia, Rebeca Perez de Diego, Carlos Flores, Darawan Rinchai, Jordi Sole-Violan, Angela Deya-Martinez, Blanca Garcia-Solis, Jose M. Lorenzo-Salazar, Elisa Hernandez-Brito, Anna-Lisa Lanz, Leen Moens, Giorgia Bucciol, Mohamed Almuqamam, Joseph Domachowske, Elena Colino, Juan Luis Santos-Perez, Francisco Marco, Claudio Pignata, Aziz Bousfiha, Stuart Turvey, Stefanie Bauer, Filomeen Haerynck, Javier Gonzalo Ocejo-Vinyals, Francisco Lendinez, Seraina Prader, Nora Naumann-Bartsch, Jana Pachlopnik Schmid, Catherine Biggs, Kyla Hildebrand, Alexandra Dreesman, Miguel Angel Cardenes, Fatima Ailal, Ibtihal Benhsaien, Giuliana Giardino, Agueda Molina-Fuentes, Claudia Fortuny, Swetha Madhavarapu, Daniel Conway, Carolina Prando, Laire Schidlowski, Maria Teresa Martinez de Saavedra Alvarez, Rafael Alfaro, Felipe Rodriguez de Castro, Isabelle Meyts, Fabian Hauck, Anne Puel, Paul Bastard, Bertrand Boisson, Emmanuelle Jouanguy, Laurent Abel, Aurelie Cobat, Qian Zhang, Jean-Laurent Casanova, Laia Alsina, Carlos Rodriguez-Gallego
Summary: X-linked recessive deficiency of TLR7 impairs SARS-CoV-2 recognition and type I IFN production, resulting in hypoxemic COVID-19 pneumonia. 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency were infected with SARS-CoV-2, with a high risk of severe pneumonia. Impaired TLR7-dependent type I IFN production contributes to their susceptibility to SARS-CoV-2.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Article
Immunology
Taylor W. Foreman, Christine E. Nelson, Michelle A. Sallin, Keith D. Kauffman, Shunsuke Sakai, Francisco Otaizo-Carrasquero, Timothy G. Myers, Daniel L. Barber
Summary: CD30 is highly expressed on granuloma T cells in macaques infected with Mtb. In mice, CD30 is essential for T cell differentiation and survival during Mtb infection, indicating that CD30-dependent co-stimulation is necessary for T cell immune responses against Mtb.
JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Article
Immunology
Zhiyong Liu, Eduardo J. Garcia Reino, Oliver Harschnitz, Hongyan Guo, Yi-Hao Chan, Noopur V. Khobrekar, Mary L. Hasek, Kerry Dobbs, Darawan Rinchai, Marie Materna, Daniela Matuozzo, Danyel Lee, Paul Bastard, Jie Chen, Yoon Seung Lee, Seong K. Kim, Shuxiang Zhao, Param Amin, Lazaro Lorenzo, Yoann Seeleuthner, Remi Chevalier, Laure Mazzolao, Claire Gay, Jean-Louis Stephan, Baptiste Milisavljevic, Soraya Boucherit, Flore Rozenberg, Rebeca Perez de Diego, Richard D. Dix, Nico Marr, Vivien Beziat, Aurelie Cobat, Melodie Aubar, Laurent Abel, Stephane Chabrier, Gregory A. Smith, Luigi D. Notarangelo, Edward S. Mocarski, Lorenz Studer, Jean-Laurent Casanova, Shen-Ying Zhang
Summary: Inborn errors of TLR3-dependent type I IFN immunity in cortical neurons underlie forebrain HSV-1 encephalitis. RIPK3 mutations impair cellular apoptosis and necroptosis, leading to uncontrolled viral growth. The patient's cells displayed no RIPK3 expression and failed to undergo programmed cell death, but exogenous type I IFN rescued the phenotype.
SCIENCE IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Danye Lee, Jeremie Le Pen, Ahmad Yatim, Beihua Dong, Yann Aquino, Masato Ogishi, Remi Pescarmona, Estelle Talouarn, Darawan Rinchai, Peng Zhang, Magali Perret, Zhiyong Liu, Iolanda Jordan, Sefika Elmas Bozdemir, Gulsum Iclal Bayhan, Camille Beaufils, Lucy Bizien, Aurelie Bisiaux, Weite Lei, Milena Hasan, Jie Chen, Christina Gaughan, Abhishek Asthana, Valentina Libri, Joseph M. Luna, Fabrice Jaffre, H. -Heinrich Hoffmann, Eleftherios Michailidis, Marion Moreews, Yoann Seeleuthner, Kaya Bilguvar, Shrikant Mane, Carlos Flores, Yu Zhang, Andres A. Arias, Rasheed Bailey, Agatha Schlueter, Baptiste Milisavljevic, Benedetta Bigio, Tom Le Voyer, Marie Materna, Adrian Gervais, Marcela Moncada-Velez, Francesca Pala, Tomi Lazarov, Romain Levy, Anna-Lena Neehus, Jeremie Rosain, Jessica Peel, Yi-Hao Chan, Marie-Paule Morin, Rosa Maria Pino-Ramirez, Serkan Belkaya, Lazaro Lorenzo, Jordi Anton, Selket Delafontaine, Julie Toubiana, Fanny Bajolle, Victoria Furnado, Marta L. DeDiego, Nadhira Fidouh, Flore Rozenberg, Jordi Perez-Tur, Shuibing Chen, Todd Evans, Frederic Geissmann, Pierre Lebon, Susan R. Weiss, Damien Bonnet, Xavier Duval, Qiang Pan-Hammarstroem, Anna M. Planas, Isabelle Meyts, Filomeen Haerynck, Aurora Pujol, Vanessa Sancho-Shimizu, Clifford L. Dalgard, Jacinta Bustamante, Anne Puel, Stephanie Boisson-Dupuis, Bertrand Boisson, Tom Maniatis, Qian Zhang, Paul Bastard, Luigi Notarangelo, Vivien Beziat, Rebeca Perez de Diego, Carlos Rodriguez-Gallego, Helen C. Su, Richard P. Lifton, Emmanuelle Jouanguy, Aurelie Cobat, Laia Alsina, Sevgi Keles, Elie Haddad, Laurent Abel, Alexandre Belot, Lluis Quintana-Murci, Charles M. Rice, Robert H. Silverman, Shen-Ying Zhang, Jean-Laurent Casanova
Article
Immunology
Quentin Philippot, Masato Ogishi, Jonathan Bohlen, Julia Puchan, Andres Augusto Arias, Tina Nguyen, Marta Martin-Fernandez, Clement Conil, Darawan Rinchai, Mana Momenilandi, Seyed Alireza Mandaviani, Mohammad Keramatipour, Jeremie Rosain, Rui Yang, Taushif Khan, Anna-Lena Neehus, Marie Materna, Ji Eun Han, Jessica Peel, Federico Mele, Marc Weisshaar, Sandra Jovic, Paul Bastard, Romain Levy, Tom Le Voyer, Peng Zhang, Majistor Raj Luxman Maglorius Renkilaraj, Carlos A. Arango-Franco, Simon Pelham, Yoann Seeleuthner, Mathieu Pochon, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Melanie Migaud, Camille Soudee, Tatiana Kochetkov, Anne Molitor, Raphael Carapito, Seiamak Bahram, Bertrand Boisson, Claire Fieschi, Davood Mansouri, Nico Marr, Satoshi Okada, Mohammad Shahrooei, Nima Parvaneh, Zahra Chavoshzadeh, Aurelie Cobat, Dusan Bogunovic, Laurent Abel, Stuart G. Tangye, Cindy S. Ma, Vivien Beziat, Federica Sallusto, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Anne Puel
Summary: Patients with IL-23R deficiency may suffer from Mendelian susceptibility to mycobacterial disease and chronic mucocutaneous candidiasis. IL-23 is essential for the production of IL-17A in MATT cells and for the production of IFN-y in both V62+ y6 T cells and MATT cells.
SCIENCE IMMUNOLOGY
(2023)