Inborn Errors In Immunity

摘要 请求支持由Dr. 杜桑·博古诺维奇，伊莎贝尔·梅茨和史蒂文·霍兰德。会议将于10月17日至12月17日期间举行。 2022年19日 先天性免疫缺陷（IEIs）是一个不断增长的群体，超过400种遗传性疾病，其中个体存在 免疫缺陷或免疫失调或两者都有IEIs联合收割机结合基因组学，下一代 转录组学和表观基因组学，生物化学，以及先天和适应性免疫学研究， 临床医学的各个方面，从临床遗传学和免疫学到代谢，神经学 和皮肤科，仅举几例。将这些规范上孤立的领域连接成一个连贯的协作 科学事业既是必要的，也是一项挑战。IEI的历史景观一直由 免疫缺陷和随之而来的感染易感性的概念，但最近的发现发现 易患自身炎症性疾病的遗传错误，也许最令人惊讶的是那些易患 感染和炎症。该会议的重点是展示遗传错误， 免疫系统影响先天和适应性分支。此外，它将大大发展这一点， 新兴领域的识别，研究和交叉传播的研究，讨论赞成和反对， 炎症和感染性免疫效应物。最后，该计划还将解决知识差距， 这些研究揭示了调节这些免疫效应物的途径，并提出了在患者中靶向这些免疫效应物的合理方法。

ABSTRACT Support is requested for a Keystone Symposia conference entitled Inborn Error of Immunity, organized by Drs. Dusan Bogunovic, Isabelle Meyts and Steven Holland. The conference will be a virtual event from October 17- 19, 2022. Inborn errors of immunity (IEIs) are a growing group of over 400 genetic disorders in which individuals present with immune deficiency, immune dysregulation, or both. IEIs combine genomics, next generation transcriptomics and epigenomics, biochemistry, as well as innate and adaptive immunology research, with diverse aspects of clinical medicine ranging from clinical genetics and immunology to metabolism, neurology and dermatology, to name only a few. Bridging these canonically isolated fields into a coherent collaborative scientific enterprise is both essential and a challenge. The historical landscape in IEI has been dominated by concepts of immune deficiency and ensuing susceptibility to infections, but recent discoveries have uncovered genetic errors predisposing to autoinflammatory diseases, and perhaps most surprising those that predispose individuals to both infection and inflammation. The conference is focused on showcasing the genetic errors of the immune system affecting both the innate and adaptive branches. Moreover, it will greatly evolve this emerging field by identifying, studying and crosspollinating studies which discuss both pro- and anti- inflammatory and infectious immune effectors. Finally, this program will also address knowledge gaps in pathways that regulate these immune effectors and suggest rational approaches to target these in patients.