Department of Molecular and Translational Medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy -
Pediatric Clinic, IRCCS San Matteo Polyclinic Foundation, Pavia, Italy.
Minerva Pediatr. 2020 Oct;72(5):393-407. doi: 10.23736/S0026-4946.20.06000-4. Epub 2020 Sep 22.
Inborn errors of immunity are diseases of the immune system resulting from mutations that alter the expression of encoded proteins or molecules. Total updated number of these disorders is currently 406, with 430 different identified gene defects involved. Studies of the underlying mechanisms have contributed in better understanding the pathophysiology of the diseases, but also the complexity of the biology of innate and adaptive immune system and its interaction with microbes. In this review we present and briefly discuss Inborn Errors of Immunity caused by defects in genes encoding for receptors and protein of cellular membrane, including cytokine receptors, T cell antigen receptor (TCR) complex, cellular surface receptors or receptors signaling causing predominantly antibody deficiencies, co-stimulatory receptors and others. These alterations impact many biological processes of immune-system cells, including development, proliferation, activation and down-regulation of the immunological response, and result in a variety of diseases that present with distinct clinical features or with overlapping signs and symptoms.
先天性免疫缺陷是由基因突变导致的免疫系统疾病，这些突变会改变编码蛋白或分子的表达。目前，这类疾病的总数已更新至 406 种，涉及 430 种不同的已识别基因缺陷。对潜在机制的研究有助于更好地理解疾病的病理生理学，也有助于理解先天和适应性免疫系统的复杂性及其与微生物的相互作用。在这篇综述中，我们介绍并简要讨论了由编码细胞表面受体和蛋白的基因突变引起的先天性免疫缺陷，包括细胞因子受体、T 细胞抗原受体 (TCR) 复合物、细胞表面受体或信号转导受体，这些缺陷主要导致抗体缺陷、共刺激受体等。这些改变影响免疫系统细胞的许多生物学过程，包括发育、增殖、激活和免疫反应的下调，导致多种具有不同临床特征或重叠体征和症状的疾病。
