Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)

描述（由申请人提供）：原发性免疫缺陷疾病（PIDDs）包括一组罕见疾病，其临床表现包括多个临床专科。虽然在PIDDs的分子表征方面取得了很大进展，但对各种形式的长期结果知之甚少。发展综合和协作的PIDDs注册对于确定结果和优化受影响患者的临床干预至关重要。此外，有必要在整个科学界增加罕见患者来源的生物样本的可用性和共享，以促进pidd的有效研究。最后，专门的教育计划对于汇集来自不同学科的专家和培养下一代医生专家至关重要，他们将照顾PIDD患者和研究人员，他们将取得突破，以增加我们对这些疾病的理解。作为创建和发展美国免疫缺陷网络（USIDNET）的参与者，我们计划利用其成功应对RFA-AI-08-066，以实现以下目标：扩大现有USIDNET注册中心的利用，并与其他对PIDD感兴趣的现有注册中心和网络建立联系，包括国际血液和骨髓移植研究中心（CIBMTR），严重慢性中性粒细胞减少症国际注册中心（SCNIR）和临床和转化科学奖（CTSA）在PIDD社区开展活动的网站。我们将开发新的pidd特定表格，扩大收集的数据，并通过与医生和倡导团体的沟通征求参与。我们将使用经过验证的仪器进行生活质量研究。我们将确定诊断和治疗的区域差异，并提供这些数据，以提高提供者的认识和护理质量。目标2：扩大现有的USIDNET细胞系资源库，并创建一个分布式生物库，以扩大罕见患者样本和独特试剂的可用性，这些样本和试剂可以在不同地点收集，并通过促进合作共享。我们将与CTSA联盟合作，为共享罕见的PIDD资源创造具体的机会。目标3：提供强化培训和教育机会，以促进PIDD的医师-科学家职业发展，并鼓励合作转化研究。我们将为相关领域的医生开发教育材料，并在美国建立建立PIDD知识的新场所。

DESCRIPTION (provided by applicant): Primary Immune Deficiency Diseases (PIDDs) include a group of rare diseases whose clinical manifestations encompass multiple clinical specialties. While great progress has been made in the molecular characterization of PIDDs, little is known of long-term outcome of the various forms. Development of comprehensive and collaborative Registries for PIDDs is of utmost importance to define outcomes and optimize clinical interventions in affected patients. In addition, there is a need to I\increase availability and sharing of the rare patient derived biological samples across the scientific community to facilitate efficient study of PIDDs. Finally, dedicated educational initiatives are essential to bring together specialists from different disciplines and create the next generation of physician experts who will care for PIDD patients and investigators who will make breakthroughs to increase our understanding of these disorders. As participants in the creation and development of the United States Immune Deficiency Network (USIDNET) we plan to capitalize on Its success in response to RFA-AI-08-066 to meet the following goals: Aim 1: Expand utilization of the existing USIDNET Registry and forge links with other existing Registries and networks with an interest in PIDD, including the Center for International Blood and Marrow Transplantation Research (CIBMTR), the Severe Chronic Neutropenia International Registries (SCNIR) and the Clinical and Translational Science Award (CTSA) sites that pursue activities in the PIDD community. We will develop new PIDD-specific forms, expand the data collected, and solicit participation through communication with physicians and advocacy groups. We will perform Quality of Life studies using validated instruments. We will define regional variability in diagnosis and treatment and make these data available to improve provider awareness and quality of care. Aim 2: Enlarge the current USIDNET Repository of cell lines, and create a Distributed Biobank to extend the availability of rare patient samples and unique reagents that can be collected at diverse sites and shared through facilitated collaborations. In conjunction with the CTSA Consortium we will build specific opportunities for sharing rare PIDD resources. Aim 3: Provide intensive training and educational opportunities to foster physician-scientist careers in PIDD and encourage collaborative translational research. We will develop educational materials for physicians in allied fields and establish new venues for building PIDD knowledge in the United States. RELEVANCE (See instructions): Primary immune defects, now numbering over 150 defects, have provided unique and unparalleled opportunities to study the individual cellular, biochemical and molecular events necessary for a functional human immune system. This program extends and amplifies three key resources established by the USIDNET, needed for the systematic study of these diseases: a Patient Registry, a Repository/Biobank and an educational program needed to sustain and carry out this work. These will accelerate work in immunology and will greatly benefit work in other diseases in which the immune system plays a integral role.