Article
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.
Proceedings of the National Academy of Sciences of the United States of America - 13 Apr 2021
Le Voyer Tom, Neehus Anna-Lena, Yang Rui, Ogishi Masato, Rosain Jérémie, Alroqi Fayhan, Alshalan Maha, Blumental Sophie, Al Ali Fatima, 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, Al Mutairi Fuad, Béziat Vivien, Weil Dominique, Mahdaviani Seyed Alireza, Ferster Alina, Zhang Shen-Ying, Reversade Bruno, Boisson-Dupuis Stéphanie, Casanova Jean-Laurent, Bustamante Jacinta
Abstract excerpt
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 bacillus Calmette-Guérin-osis and disseminated tuberculosis, and without any known inborn error of IFN-γ. The patients...
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