Inborn Errors In Immunity

摘要 请求支持由博士组织的题为《先天免疫错误》的Keystone研讨会。 杜桑·博古诺维奇、伊莎贝尔·梅茨和史蒂文·霍兰德。大会将于10月17日起举行，为虚拟活动- 2022年19号。 先天性免疫错误(IEIS)是一种由400多个个体存在的遗传性疾病组成的不断增长的群体 患有免疫缺陷或免疫失调，或两者兼而有之。IEIS结合基因组学，下一代 转录学和表观基因组学、生物化学以及先天和获得性免疫学研究 临床医学的各个方面，从临床遗传学和免疫学到新陈代谢和神经学 皮肤科，仅举几例。将这些规范上孤立的领域连接成连贯的协作 科学事业既是必不可少的，也是一个挑战。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，但最近的发现已经发现 易患自体炎症性疾病的遗传错误，也许最令人惊讶的是那些易患上疾病的人 个人对感染和炎症都有抵抗力。这次会议的重点是展示人类的遗传错误 免疫系统同时影响先天和后天的分支。此外，它将极大地发展这一点 通过识别、研究和交叉交叉讨论支持和反对的研究来形成新兴领域 炎症性和传染性免疫效应物。最后，该计划还将解决以下方面的知识差距 调节这些免疫效应器的途径，并建议在患者中针对这些免疫效应器的合理方法。

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.