Aranda Carolina Sanchez, Guimarães Rafaela Rola, de Gouveia-Pereira Pimentel Mariana
Universidade Federal de São Paulo, Departamento de Pediatria, São Paulo, SP, Brazil.
Universidade Federal de São Paulo, Departamento de Pediatria, São Paulo, SP, Brazil.
J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S39-S48. doi: 10.1016/j.jped.2020.10.014. Epub 2020 Dec 17.
Inborn Errors of Immunity (IEI), also known as primary immunodeficiencies, correspond to a heterogeneous group of congenital diseases that primarily affect immune response components. The main clinical manifestations comprise increased susceptibility to infections, autoimmunity, inflammation, allergies and malignancies. The aim of this article is to review the literature on combined immunodeficiencies (CIDs) focusing on the diagnosis and treatment and the particularities of the clinical management of these patients.
Critical integrative review, aimed to present articles related to primary immunodeficiencies combined with a searchin the PubMed and SciELO databases, with evaluation of publications from the last twenty years that were essential for the construction of knowledge on this group of diseases.
We highlight the main characteristics of CIDs, dividing them according to their pathophysiological mechanisms, such as defects in the development of T cells, TCR signaling, co-stimulatory pathways, cytokine signaling, adhesion, migration and organization of the cytoskeleton, apoptosis pathways, DNA replication and repair and metabolic pathways. In CIDs, clinical manifestations vary widely, from sinopulmonary bacterial infections and diarrhea to opportunistic infections, caused by mycobacteria and fungi. Neonatal screening makes it possible to suspect these diseases before clinical manifestations appear.
The CIDs or IEI constitute a complex group of genetic diseases with T-cell involvement. Neonatal screening for these diseases has improved the prognosis of these patients, especially in severe ones, known as SCIDs.
免疫缺陷病（IEI），也称为原发性免疫缺陷，是一组异质性先天性疾病，主要影响免疫反应成分。主要临床表现包括易患感染、自身免疫、炎症、过敏和恶性肿瘤。本文旨在综述关于联合免疫缺陷（CID）的文献，重点关注这些患者的诊断、治疗及临床管理的特殊性。
批判性综合综述，旨在呈现与原发性免疫缺陷相关的文章，并在PubMed和SciELO数据库中进行检索，评估过去二十年对构建该组疾病知识至关重要的出版物。
我们强调了CID的主要特征，根据其病理生理机制进行分类，如T细胞发育缺陷、TCR信号传导、共刺激途径、细胞因子信号传导、黏附、迁移和细胞骨架组织、凋亡途径、DNA复制和修复以及代谢途径。在CID中，临床表现差异很大，从鼻窦肺部细菌感染和腹泻到由分枝杆菌和真菌引起的机会性感染。新生儿筛查使得在临床表现出现之前就能怀疑这些疾病。
CID或IEI构成一组复杂的涉及T细胞的遗传性疾病。对这些疾病进行新生儿筛查改善了这些患者的预后，尤其是在严重的病例中，即重症联合免疫缺陷（SCID）。
