USIDNET: A resource for clinical immunologists

摘要 美国免疫缺陷网络(USIDNET)一直作为以下方面的资源得到资助 自1992年以来，临床免疫学家从单一的诊断登记演变为研究资源小组 包括强大的多样化的患者登记，包括生活质量、实验室和临床特征；患者细胞系， 以及各种教育努力。2017年，登记处将数据转换为SNOMED和LOINC术语， 开启了一个以数据标准和互操作性为特征的时代。登记处目前持有复杂的 包括3000多个离散数据字段的5000多名患者的表型数据。有关遗传信息，请访问 超过2000名患者。在新的资助机制下，USIDNET准备进一步增加资源，包括 纳入和改善先天性免疫缺陷的遗传诊断状况。我们的中心目标是 作为有关基因和表型的信息的纽带。USIDNET注册处将继续为 通过定义表型并通过增强的纵向研究来推动改善结果研究的关键需求 数据。这一演变使更多的技术创新成为可能，并将服务于社区 通过讨论和调查确定需求。该计划有六个目标，这些目标都源于中央 注册工作。新的注册表将以从参与站点进行半自动数据提取为基础 以最大限度地实现数据标准化和纵向收集。基因数据的输入将标准化，我们将 将向原本无法进行测序的患者提供下一代测序，以改善 USIDNET中遗传数据的丰富性和“配对”努力的核心。这六个目标交织在一起， 支持提高数据和利用率。在目标1中，我们将通过制定一项适用于直接 可跨机构共享的数据提取，并建立单一的IRB以促进监管 合规性。AIM 2制定了改进的注册表使用指南，为END提供统计支持 并带头开展指导委员会界定的影响较大的研究。目标3提出了一个 创新地使用数据，通过特定的配对将拥有相似患者的调查人员联系起来 接近。在目标4中，我们将利用USIDNET数据来加强努力，以丰富免疫学HPO术语和 Clingen条目。在目标5中，我们将推动成功的传播努力，编制一份通讯，与 结构化功能，以提高清晰度，并增强我们网站上的材料。在目标6中，我们将正式 指导努力加强下一代的研究技能，并提供职业指导。这些 资源将为免疫学社区提供关键信息，而此时 单基因先天性免疫错误使临床决策变得更加复杂和不确定。 这一新的R24建立在以前在先天性免疫错误中成功定义表型的基础上，改进了数据 收集数据，并以新的方式利用数据来支持社区。

ABSTRACT The United States Immunodeficiency Network (USIDNET) has been continuously funded as a resource for Clinical Immunologists since 1992, evolving from single diagnosis registries to a panel of research resources including a robust diverse patient registry with quality of life, laboratory, and clinical features; patient cell lines, and a variety of educational efforts. In 2017, the registry converted the data to SNOMED and LOINC terms, ushering in an era characterized by data standards and interoperability. The registry currently holds complex phenotype data on over 5000 patients with over 3000 discrete data fields. Genetic information is available on over 2000 patients. Under a new funding mechanism, USIDNET is poised to further enhance resources both incorporating and improving the state of genetic diagnostics for Inborn Errors of Immunity. Our central goal is to serve as a nexus of information on genotype and phenotype. The USIDNET registry will continue to serve a critical need by defining phenotypes and propelling improved outcomes research with enhanced longitudinal data. This evolution renders additional technical innovations possible in a manner that will serve community needs identified through discussion and a survey. This Program has six Aims which all derive from the central registry effort. The new registry will be anchored by a semi-automated data extraction from participating sites to maximize data standardization and longitudinal collection. Input of genetic data will be standardized and we will offer next generation sequencing to patients who otherwise cannot have sequencing, to improve the richness of genetic data in USIDNET and to nucleate a “matchmaking” effort. The six Aims are interwoven to support improved data and utilization. In Aim 1, we will improve the registry by developing a protocol for direct data extraction that can be shared across institutions and instituting a Single IRB to facilitate regulatory compliance. Aim 2 develops improved guidance for registry utilization, provides statistical support for end users, and spearheads studies of high impact, defined by the Steering Committee. Aim 3 proposes an innovative use of data to connect investigators who have similar patients through a specific matchmaking approach. In Aim 4, we will utilize USIDNET data to augment efforts to enrich immunology HPO terms and ClinGen entries. In Aim 5, we will galvanize successful dissemination efforts, develop a newsletter with structured features to improve clarity, and enhance material on our website. In Aim 6, we will formalize mentoring efforts to strengthen the research skills of the next generation and provide career mentoring. These resources will provide pivotal information for the Immunology community at a time when the wealth of new monogenic Inborn Errors of Immunity have made clinical decision making far more complex and uncertain. This new R24 builds on previous successes defining phenotypes in Inborn Errors of Immunity, improves data collection, and utilizes the data in new ways to support the community.