核因子-κB（NF-κB）1 和 NF-κB2 缺陷如何导致先天性免疫缺陷的临床和免疫表现的发生？
How do nuclear factor kappa B (NF-κB)1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?
机构信息
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
出版信息
Expert Rev Clin Immunol. 2023 Mar;19(3):329-339. doi: 10.1080/1744666X.2023.2174105. Epub 2023 Feb 9.
INTRODUCTION
Genetic defects affect the manner of the immune system's development, activation, and function. Nuclear factor-kappa B subunit 1 (NF-κB1) and NF-κB2 are involved in different biological processes, and deficiency in these transcription factors may reveal clinical and immunological difficulties.
AREAS COVERED
This review article gathers the most frequent clinical and immunological remarkable characteristics of NF-κB1 and NF-κB2 deficiencies. Afterward, an effort is made to describe the biological mechanism, which is likely to be the cause of these clinical and immunological abnormalities.
EXPERT OPINION
The present review article has explained the mechanism of contributions of the NF-κB1 and NF-κB2 deficiency in revealing immunodeficiency symptoms, specifically immunological and clinical manifestations. These mechanisms demonstrate the importance of NF-κB1 and NF-κB2 signaling pathways for B and T cell development, activation, antibody production, and immunotolerance. The manifestation of a mutation can range from no symptoms to severe complications in a family.
简介
遗传缺陷会影响免疫系统的发育、激活和功能方式。核因子-κB 亚单位 1（NF-κB1）和 NF-κB2 参与不同的生物学过程，这些转录因子的缺乏可能会表现出临床和免疫学方面的困难。
涵盖领域
本文综述了 NF-κB1 和 NF-κB2 缺陷最常见的临床和免疫学显著特征。随后，本文试图描述可能导致这些临床和免疫学异常的生物学机制。
专家意见
本文综述解释了 NF-κB1 和 NF-κB2 缺乏在揭示免疫缺陷症状，特别是免疫和临床症状方面的作用机制。这些机制表明 NF-κB1 和 NF-κB2 信号通路对 B 和 T 细胞发育、激活、抗体产生和免疫耐受的重要性。基因突变的表现范围可以从无症状到家族中出现严重并发症。
Zotero 插件