Jérémie Rosain, Ayca Kiykim, Alexandre Michev, Yasemin Kendir-Demirkol, Darawan Rinchai, Jessica N Peel, Hailun Li, Suheyla Ocak, Pinar Gokmirza Ozdemir, Tom Le Voyer, Quentin Philippot, Taushif Khan, Anna-Lena Neehus, Mélanie Migaud, Camille Soudée, Stéphanie Boisson-Dupuis, Nico Marr, Alessandro Borghesi, Jean-Laurent Casanova, Jacinta Bustamante
PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been identified. However, pathogenic variants of IFNG encoding a defective IFN-γ have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST). METHODS: We characterized a new patient with MSMD by genetic, immunological, and clinical means...
February 16, 2024: Journal of Clinical Immunology