Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.
Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.
复制标题
控制 IFN-γ 抗分枝杆菌免疫的人类转录因子的先天性错误。
DOI：
10.1016/j.coi.2023.102296
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发表时间：
2023
影响因子：
7
通讯作者：
Boisson-Dupuis,Stéphanie
中科院分区：
文献类型：
--
作者：
Ogishi,Masato;Yang,Rui;Rosain,Jérémie;Bustamante,Jacinta;Casanova,Jean-Laurent;Boisson-Dupuis,Stéphanie
通过对tf的IEI研究揭示了不同阶段的抗真菌IFN-γ免疫。髓细胞产生的白细胞介素(IL)-12和IL-23可促进IFN-γ的产生。淋巴细胞产生的IFN-γ增强了分枝杆菌在吞噬细胞中的杀伤作用。先天免疫错误（IEI）描述了人类冗余和必要的防御机制。我们回顾了15种常染色体显性（AD）或隐性（AR） IEI，涉及11种转录因子（tf）和损害干扰素γ (IFN-γ)免疫，赋予分枝杆菌疾病的易感性。我们考虑了三种基于机制的类别：1)IEI主要影响髓细胞室发育（AD GATA2和AR和AD IRF8缺陷），2)IEI主要影响淋巴细胞室发育（AR FOXN1, AR PAX1, AR RORγ/RORγ t, AR T-bet, AR c-Rel， AD STAT3功能获得（GOF）和功能丧失（LOF）缺陷），以及3)IEI主要影响髓细胞和/或淋巴细胞功能（AR和AD STAT1 LOF， AD STAT1 GOF， AR IRF1和AD NFKB1缺陷）。我们讨论了宿主防御分枝杆菌必需的先天性tf错误的发现和研究对人类IFN-γ免疫的分子和细胞分析的贡献。
HighlightsDistinct stages of antimycobacterial IFN-γ immunity revealed by studies of IEI of TFs.Interleukin (IL)-12 and IL-23, produced by myeloid cells, enhance IFN-γ production.IFN-γ, produced by lymphocytes, enhances mycobacterial killing in phagocytes.Inborn errors of immunity (IEI) delineate redundant and essential defense mechanisms in humans. We review 15 autosomal-dominant (AD) or-recessive (AR) IEI involving 11 transcription factors (TFs) and impairing interferon-gamma (IFN-γ) immunity, conferring a predisposition to mycobacterial diseases. We consider three mechanism-based categories: 1) IEI mainly affecting myeloid compartment development (AD GATA2 and AR and AD IRF8 deficiencies), 2) IEI mainly affecting lymphoid compartment development (AR FOXN1, AR PAX1, AR RORγ/RORγT, AR T-bet, AR c-Rel, AD STAT3 gain-of-function (GOF), and loss-of-function (LOF) deficiencies), and 3) IEI mainly affecting myeloid and/or lymphoid function (AR and AD STAT1 LOF, AD STAT1 GOF, AR IRF1, and AD NFKB1 deficiencies). We discuss the contribution of the discovery and study of inborn errors of TFs essential for host defense against mycobacteria to molecular and cellular analyses of human IFN-γ immunity.