Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)

 描述(申请人提供)：原发免疫缺陷疾病PIDD领域继续快速增长，识别了200多个不同的疾病相关基因。为了跟上这些发现的步伐，NIH支持了一系列机制来加速和扩大PIDD研究，资助个人赠款、合同和合作协议。NIAID已经认识到，需要一些额外的资源来推进这项工作，包括数据收集、医生教育和获取稀有资源，并于2003年首次提出了这项工作的RFA。为了满足这一需求，一组经验丰富的PIDD调查人员与免疫缺陷基金会(IDF)合作，成立了美国免疫缺陷网络(USIDNET)。该小组获得了第一份合同(2003-2010年)，随后，作为竞争性延续，USIDNET获得了这项工作的合作协议，获得了2010-2015年的资金。本申请是为了在RFA-AI-13-054“协助调查初级免疫缺陷疾病的资源”下继续这项工作。为了继续和加快这一势头，USIDNET调查员提议推进这一倡议，并制定创新计划，以扩大和加快这项工作。USIDNET的目标是维护、改进和扩大所需的PIDD资源，包括(1)扩大安全的、基于网络的、同意使用所有形式PIDD的USIDNET个人登记表的范围、登记和使用，以收集纵向数据，开发更多的PIDD专用表格，支持观察性研究，刺激研究合作，直接与患者社区接触，并使用生活质量指标进一步定义患者结果；(2)维护和扩大细胞和DNA储存库，以协助PIDD的研究，并设法提供其他稀有材料，以及(3)为传播关于这些疾病的信息提供密集的培训和教育机会，并鼓励在各级开展PIDD合作研究。

 DESCRIPTION (provided by applicant): The field of Primary Immune Deficiency Diseases PIDD continues to grow rapidly, with recognition of over 200 different disease-associated genes. To keep pace with these discoveries, the NIH has supported a number of mechanisms to accelerate and expand PIDD research, funding individual grants, contracts, and cooperative agreements. The NIAID has recognized that a number of additional resources are required to advance this work, including data collection, physician education, and access to rare resources and first proposed an RFA for this work in 2003. To answer this need, a group of experienced PIDD investigators formed the U. S. Immunodeficiency Network (USIDNET), in collaboration with the Immune Deficiency Foundation (IDF). This group was awarded the first contract, (2003-2010) and subsequently, as a competitive continuation the USIDNET was awarded a cooperative agreement for this work, receiving funds for 2010-2015. The present application is for the continuation of this work, under RFA-AI-13-054, "Resources to Assist Investigations in Primary Immunodeficiency Diseases". To continue and accelerate this momentum, the USIDNET investigators propose to carry forward this initiative, with innovative plans to extend and accelerate this work. The goals of USIDNET are to maintain, improve and extend the needed PIDD resources, including (1) Extend the scope, enrollment and utilization of the secure, web-based, consented USIDNET Registry of individuals with all forms of PIDD, to collect longitudinal data, develop additional PIDD-specific forms, support observational studies, stimulate research collaborations, engage the patient community directly and further define patient outcomes using Quality of Life indicators; (2) Maintain and expand a repository of cells and DNA to aid in the research of PIDD and find ways to make accessible other rare materials and (3) Provide intensive training and educational opportunities for dissemination of information about these diseases, and encourage collaborative PIDD research at all levels.