School of Medicine, Deakin University, Geelong, VIC 3216, Australia.
Institute for Mental and Physical Health and Clinical Translation (IMPACT), Deakin University, Geelong, VIC 3216, Australia.
Int J Mol Sci. 2023 Mar 30;24(7):6468. doi: 10.3390/ijms24076468.
Primary immunodeficiency (PID) disorders, also commonly referred to as inborn errors of immunity, are a heterogenous group of human genetic diseases characterized by defects in immune cell development and/or function. Since these disorders are generally uncommon and occur on a variable background profile of potential genetic and environmental modifiers, animal models are critical to provide mechanistic insights as well as to create platforms to underpin therapeutic development. This review aims to review the relevance of zebrafish as an alternative genetic model for PIDs. It provides an overview of the conservation of the zebrafish immune system and details specific examples of zebrafish models for a multitude of specific human PIDs across a range of distinct categories, including severe combined immunodeficiency (SCID), combined immunodeficiency (CID), multi-system immunodeficiency, autoinflammatory disorders, neutropenia and defects in leucocyte mobility and respiratory burst. It also describes some of the diverse applications of these models, particularly in the fields of microbiology, immunology, regenerative biology and oncology.
原发性免疫缺陷（PID）疾病，也通常被称为先天性免疫缺陷，是一组异质性的人类遗传疾病，其特征是免疫细胞的发育和/或功能缺陷。由于这些疾病通常不常见，并且发生在潜在遗传和环境修饰剂的可变背景谱上，因此动物模型对于提供机制见解以及创建支持治疗开发的平台至关重要。这篇综述旨在回顾斑马鱼作为 PID 的替代遗传模型的相关性。它概述了斑马鱼免疫系统的保守性，并详细介绍了多种特定人类 PID 的斑马鱼模型的具体实例，涵盖了多种不同类别，包括严重联合免疫缺陷（SCID）、联合免疫缺陷（CID）、多系统免疫缺陷、自身炎症性疾病、中性粒细胞减少症以及白细胞迁移和呼吸爆发缺陷。它还描述了这些模型的一些不同应用，特别是在微生物学、免疫学、再生生物学和肿瘤学领域。
