Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 118; no. 15; pp. 1 - 12
• Main Authors: Le Voyer, Tom, Neehus, Anna-Lena, Yang, Rui, Ogishi, Masato, Rosain, Jérémie, Alroqi, Fayhan, Alshalan, Maha, Blumental, Sophie, Ali, Fatima Al, Khan, Taushif, Ata, Manar, Rozen, Laurence, Demulder, Anne, Bastard, Paul, Gruber, Conor, Roynard, Manon, Seeleuthener, Yoann, Rapaport, Franck, Bigio, Benedetta, Chrabieh, Maya, Sng, Danielle, Berteloot, Laureline, Boddaert, Nathalie, Rozenberg, Flore, Al-Muhsen, Saleh, Bertoli-Avella, Aida, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Mansouri, Davood, Mutairi, Fuad Al, Béziat, Vivien, Weil, Dominique, Mahdaviani, Seyed Alireza, Ferster, Alina, Zhang, Shen-Ying, Reversade, Bruno, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 13.04.2021
• Subjects: A549 Cells; Adolescent; Antigens, Neoplasm - genetics; Antigens, Neoplasm - metabolism; Biological Sciences; Biotechnology; Cell lines; Cells, Cultured; Child; Cytokines; Cytoplasmic Granules - metabolism; DNA helicase; Double-stranded RNA; Female; Granular materials; HEK293 Cells; HeLa Cells; Homeostasis; Homozygote; Humans; Infant; Interferon-gamma - metabolism; Leukocytosis - genetics; Leukocytosis - pathology; Life Sciences; Localization; Lymphocytes; Lymphoid cells; Male; Monocytes; Monocytosis; Mutation; Mycobacterium Infections, Nontuberculous - genetics; Mycobacterium Infections, Nontuberculous - pathology; Pedigree; Proteins; THP-1 Cells; Tuberculosis; Young Adult; γ-Interferon; inborn error of immunity; ZNFX1; inflammation; monocytosis; mycobacteria

Human inborn errors of IFN-γ underlie mycobacterial disease, due to insufficient IFN-γ production by lymphoid cells, impaired myeloid cell responses to this cytokine, or both. We report four patients from two unrelated kindreds with intermittent monocytosis and mycobacterial disease, including bacil...