Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, EU, France; University of Paris, Imagine Institute, Paris, EU, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, EU, France; University of Paris, Imagine Institute, Paris, EU, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, EU, France.
Curr Opin Immunol. 2021 Oct;72:262-271. doi: 10.1016/j.coi.2021.07.001. Epub 2021 Jul 24.
Clinical disease caused by the agent of tuberculosis, Mycobacterium tuberculosis, and by less virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria, can result from inborn errors of immunity (IEIs). IEIs underlie more than 450 conditions, each associated with an impairment of the development and/or function of hematopoietic and/or non-hematopoietic cells involved in host defense. Only a minority of IEIs confer predisposition to mycobacterial disease. The IEIs underlying susceptibility to bona fide tuberculosis are less well delineated than those responsible for susceptibility to less virulent mycobacteria. However, all these IEIs share a defining feature: the impairment of immunity mediated by interferon gamma (IFN-γ). More profound IFN-γ deficiency is associated with a greater vulnerability to weakly virulent mycobacteria, whereas more selective IFN-γ deficiency is associated with a more selective predisposition to mycobacterial disease. We review here recent progress in the study of IEIs underlying mycobacterial diseases.
由结核分枝杆菌和毒力较弱的分枝杆菌（如卡介苗（BCG）疫苗和环境分枝杆菌）引起的临床疾病可能源于固有免疫缺陷（IEI）。IEI 可导致 450 多种疾病，每种疾病均与宿主防御中涉及的造血和/或非造血细胞的发育和/或功能受损有关。只有少数 IEI 使个体易患分枝杆菌病。与易患毒力较弱的分枝杆菌相比，导致真正结核病易感性的 IEI 尚未得到很好的描述。然而，所有这些 IEI 都具有一个共同的特征：干扰素 γ（IFN-γ）介导的免疫受损。更严重的 IFN-γ 缺乏与对弱毒分枝杆菌的易感性增加有关，而更具选择性的 IFN-γ 缺乏与对分枝杆菌病的更选择性易感性有关。本文综述了近年来对分枝杆菌病相关 IEI 的研究进展。
