| Literature DB >> 33296702 |
Rui Yang1, Federico Mele2, Lisa Worley3, David Langlais4, Jérémie Rosain5, Ibithal Benhsaien6, Houda Elarabi7, Carys A Croft8, Jean-Marc Doisne9, Peng Zhang10, Marc Weisshaar11, David Jarrossay2, Daniela Latorre11, Yichao Shen10, Jing Han10, Masato Ogishi10, Conor Gruber12, Janet Markle10, Fatima Al Ali13, Mahbuba Rahman13, Taushif Khan13, Yoann Seeleuthner5, Gaspard Kerner5, Lucas T Husquin14, Julia L Maclsaac15, Mohamed Jeljeli16, Abderrahmane Errami17, Fatima Ailal6, Michael S Kobor15, Carmen Oleaga-Quintas5, Manon Roynard5, Mathieu Bourgey18, Jamila El Baghdadi19, Stéphanie Boisson-Dupuis20, Anne Puel20, Fréderic Batteux16, Flore Rozenberg21, Nico Marr22, Qiang Pan-Hammarström23, Dusan Bogunovic12, Lluis Quintana-Murci24, Thomas Carroll25, Cindy S Ma3, Laurent Abel20, Aziz Bousfiha6, James P Di Santo9, Laurie H Glimcher26, Philippe Gros27, Stuart G Tangye3, Federica Sallusto28, Jacinta Bustamante29, Jean-Laurent Casanova30.
Abstract
Inborn errors of human interferon gamma (IFN-γ) immunity underlie mycobacterial disease. We report a patient with mycobacterial disease due to inherited deficiency of the transcription factor T-bet. The patient has extremely low counts of circulating Mycobacterium-reactive natural killer (NK), invariant NKT (iNKT), mucosal-associated invariant T (MAIT), and Vδ2+ γδ T lymphocytes, and of Mycobacterium-non reactive classic TH1 lymphocytes, with the residual populations of these cells also producing abnormally small amounts of IFN-γ. Other lymphocyte subsets develop normally but produce low levels of IFN-γ, with the exception of CD8+ αβ T and non-classic CD4+ αβ TH1∗ lymphocytes, which produce IFN-γ normally in response to mycobacterial antigens. Human T-bet deficiency thus underlies mycobacterial disease by preventing the development of innate (NK) and innate-like adaptive lymphocytes (iNKT, MAIT, and Vδ2+ γδ T cells) and IFN-γ production by them, with mycobacterium-specific, IFN-γ-producing, purely adaptive CD8+ αβ T, and CD4+ αβ TH1∗ cells unable to compensate for this deficit.Entities:
Keywords: IFN-γ; Mendelian susceptibility to mycobacterial disease; T-bet; immunodeficiency; inborn errors of immunity; innate lymphocyte; innate-like adaptive lymphocyte; mycobacterium
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Year: 2020 PMID： 33296702 PMCID： PMC7770098 DOI： 10.1016/j.cell.2020.10.046
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582