医学微生物学
重组DNA
医学
免疫学
病毒学
生物
遗传学
基因
作者
Jérémie Rosain,Ayça Kıykım,Alexandre Michev,Yasemin Kendir Demirkol,Darawan Rinchai,Jessica N. Peel,Hailun Li,Süheyla Ocak,Pınar Gökmirza Özdemir,Tom Le Voyer,Quentin Philippot,Taushif Khan,Anna‐Lena Neehus,Mélanie Migaud,Camille Soudée,Stéphanie Boisson‐Dupuis,Nico Marr,A. Borghesi,Jean‐Laurent Casanova,Jacinta Bustamante
标识
DOI:10.1007/s10875-024-01661-5
摘要
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).
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