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Genetics of Pediatric Immune-Mediated Diseases and Human Immunity
Annual Review of Immunology ( IF 26.9 ) Pub Date : 2021-04-26 , DOI: 10.1146/annurev-immunol-093019-124513
Erica G Schmitt 1 , Megan A Cooper 1
Affiliation  

Primary immunodeficiency diseases (PIDs) are a rapidly growing, heterogeneous group of genetically determined diseases characterized by defects in the immune system. While individually rare, collectively PIDs affect between 1/1,000 and 1/5,000 people worldwide. The clinical manifestations of PIDs vary from susceptibility to infections to autoimmunity and bone marrow failure. Our understanding of the human immune response has advanced by investigation and discovery of genetic mechanisms of PIDs. Studying patients with isolated genetic variants in proteins that participate in complex signaling pathways has led to an enhanced understanding of host response to infection, and mechanisms of autoimmunity and autoinflammation. Identifying genetic mechanisms of PIDs not only furthers immunological knowledge but also benefits patients by dictating targeted therapies or hematopoietic stem cell transplantation. Here, we highlight several of these areas in the field of primary immunodeficiency, with a focus on the most recent advances.

中文翻译:


小儿免疫介导疾病和人类免疫的遗传学

原发性免疫缺陷病 (PID) 是一组快速增长的异质性遗传疾病,其特征是免疫系统缺陷。虽然个别罕见,但总体而言,PID 会影响全球 1/1,000 至 1/5,000 人。PID 的临床表现从对感染的易感性到自身免疫和骨髓衰竭不等。通过研究和发现 PID 的遗传机制,我们对人类免疫反应的理解有所提高。研究在参与复杂信号通路的蛋白质中具有分离遗传变异的患者,可以加深对宿主对感染的反应以及自身免疫和自身炎症机制的理解。确定 PID 的遗传机制不仅可以加深免疫学知识,而且可以通过指示靶向治疗或造血干细胞移植使患者受益。在这里,我们重点介绍了原发性免疫缺陷领域中的几个领域,并重点介绍了最新进展。

更新日期:2021-04-27
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