人类转录因子调控 IFN-γ 抗分枝杆菌免疫的先天性错误。
Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity.
机构信息
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA; The David Rockefeller Graduate Program, Rockefeller University, New York, NY, USA.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY, USA.
出版信息
Curr Opin Immunol. 2023 Apr;81:102296. doi: 10.1016/j.coi.2023.102296. Epub 2023 Mar 1.
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.
先天性免疫缺陷（IEI）阐明了人类冗余和必需的防御机制。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（TFs），并损害干扰素-γ（IFN-γ）免疫，使人类易患分枝杆菌病。我们考虑了三种基于机制的类别：1）主要影响髓系细胞发育的 IEI（AD GATA2 和 AR 和 AD IRF8 缺陷），2）主要影响淋巴系细胞发育的 IEI（AR FOXN1、AR PAX1、AR RORγ/RORγT、AR T-bet、AR c-Rel、AD STAT3 功能获得性（GOF）和功能丧失性（LOF）缺陷），以及 3）主要影响髓系和/或淋巴系功能的 IEI（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所需的 TF 先天性缺陷的发现和研究对人类 IFN-γ 免疫的分子和细胞分析的贡献。
Zotero 插件