Maximizing insights from monogenic immune disorders.
Maximizing insights from monogenic immune disorders.
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DOI：
10.1016/j.coi.2021.09.008
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发表时间：
2021-12
影响因子：
7
通讯作者：
Lucas CL
中科院分区：
文献类型：
--
作者：
Barmada A;Ramaswamy A;Lucas CL
单基因免疫疾病对破坏人类单基因的后果提供了前所未有的见解，从而使我们了解基本的免疫功能和疾病。基因组学加速了单基因疾病的发现，同时也揭示了人类疾病的复杂性，其中基因组以外的几个因素可以控制发病机制。在这一关头，最佳的前进道路将侧重于最大限度地从这些疾病中获得基本的和翻译的免疫学见解。如果人类疾病基因发现与使用整合组学和老鼠建模的机械性研究相结合，以利用它们的独特优势，这一追求将是最直接和最有影响的。
Monogenic immune disorders provide unprecedented insights into the consequences of disrupting single genes in humans, thereby informing our understanding of fundamental immune function and disease. Genomics has accelerated monogenic disease discovery while also revealing the complexity of human disease, where several factors beyond the genome can govern pathogenesis. At this juncture, the optimal path forward will focus on maximizing basic and translational immunology insights from these disorders. This pursuit will be most direct and impactful if human disease gene discovery is paired with mechanistic studies employing integrative omics and mouse modeling to leverage their unique strengths.