中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (12): 922-928.doi: 10.12144/zgmfskin202312922

• 综述 • 上一篇    下一篇

先天性干扰素免疫缺陷致遗传性分枝杆菌易感综合征的机制研究

涂小娇,刘亭亭,刘红,张福仁   

  1. 山东第一医科大学附属皮肤病医院（山东省皮肤病医院），山东省皮肤病性病防治研究所，济南，250022
  • 出版日期:2023-12-15 发布日期:2023-11-22

Mechanism of inborn interferon immunodeficiency induced mendelian susceptibility to mycobacterial disease

TU Xiaojiao, LIU Tingting, LIU Hong, ZHANG Furen   

  1. Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250022, China
  • Online:2023-12-15 Published:2023-11-22

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摘要： 遗传性分枝杆菌易感综合征（Mendelian susceptibility to mycobacterial disease, MSMD）是一种罕见的先天性疾病，其特征是选择性易感弱毒性分枝杆菌，如卡介苗（BCG Vaccine）和环境分枝杆菌。γ-干扰素（interferon-γ, IFN-γ）在细菌免疫防御机制中至关重要，先天性IFN-γ免疫缺陷是MSMD重要的发病机制。从1996年开始，先后发现了18个与MSMD相关的致病基因，绝大多数基因突变可以引起先天性IFN-γ免疫缺陷。本文将对遗传性分枝杆菌易感综合征的致病基因及其引起分枝杆菌感染的机制进行系统综述。

关键词: 遗传性分枝杆菌易感综合征, 遗传疾病, 免疫缺陷, 干扰素

Abstract: Mendelian susceptibility to mycobacterial disease（MSMD）is an inborn immunodeficiency disease, characterizing by selective susceptibility to weakly virulent mycobacteria, such as BCG Vaccine/environmental mycobacteria. IFN-γ plays an important role in antibacterial immune response, and inborn IFN-γ-related immunodeficiency involves in pathogenesis of the MSMD. Since 1996, 18 causal genes of MSMD have been identified，almost all the known genetic etiologies are inborn errors of IFN-γ immunity. Here we review the genetic and immunological features of patients with inborn errors of IFN-γ-dependent immunity in MSMD.

Key words: Mendelian susceptibility to mycobacterial disease, genetic diseases, immunodeficiency, interferon