Department of Pediatrics, Division of Pediatric Hematology Oncology, University Hospitals Rainbow Babies & Children's Hospital, Cleveland, OH, United States.
School of Medicine, Case Western Reserve University, Cleveland, OH, United States.
Front Immunol. 2023 Jan 16;13:1034317. doi: 10.3389/fimmu.2022.1034317. eCollection 2022.
With the discovery of novel diseases and pathways, as well as a new outlook on certain existing diseases, cellular trafficking disorders attract a great deal of interest and focus. Understanding the function of genes and their products in protein and lipid synthesis, cargo sorting, packaging, and delivery has allowed us to appreciate the intricate pathophysiology of these biological processes at the molecular level and the multi-system disease manifestations of these disorders. This article focuses primarily on lymphocyte intracellular trafficking diseases from a clinician's perspective. Familial hemophagocytic lymphohistiocytosis is the prototypical disease of abnormal vesicular transport in the lymphocytes. In this review, we highlight other mechanisms involved in cellular trafficking, including membrane contact sites, autophagy, and abnormalities of cytoskeletal structures affecting the immune cell function, based on a newer classification system, along with management aspects of these conditions.
随着新型疾病和途径的发现,以及对某些现有疾病的新观点,细胞运输障碍引起了极大的关注。了解基因及其产物在蛋白质和脂质合成、货物分拣、包装和运输中的功能,使我们能够从分子水平上理解这些生物过程的复杂病理生理学,以及这些疾病的多系统疾病表现。本文主要从临床医生的角度关注淋巴细胞细胞内运输疾病。家族性噬血细胞性淋巴组织细胞增多症是淋巴细胞中异常囊泡运输的典型疾病。在这篇综述中,我们根据一个新的分类系统,重点介绍了其他涉及细胞运输的机制,包括膜接触位点、自噬以及影响免疫细胞功能的细胞骨架结构异常,并介绍了这些疾病的治疗方面。