Immunodeficiencies and Autoimmune Diseases (a Scientific Colloquium)

描述（由申请人提供）：尽管自身免疫是免疫系统的过度反应，而免疫缺陷是反应不足，但免疫缺陷疾病和自身免疫疾病并不相互排斥，因为两者都代表免疫反应的严重失调。免疫缺陷与免疫系统中的一种细胞或可溶性介质的功能受损有关。例如，大约20%的患有常见变异性免疫缺陷（CVID）（一种B细胞缺陷）的患者发展为自身免疫性病症，例如特发性血小板减少症（ITP）、溶血性贫血、类风湿性关节炎、干燥综合征、原发性胆汁性肝硬化和恶性贫血.系统性红斑狼疮（SLE）也可能与CVID同时发生，但SLE的发展可能先于或跟随CIVD的发展，说明了基于免疫调节缺陷的基本缺陷的自身免疫和免疫缺陷之间的双向关系。研究有助于解释自身免疫性疾病中T细胞缺陷之间联系的遗传机制的新机会正在迅速出现。除了人类疾病之外，这些遗传缺陷中的一些已经在实验动物中再现，在实验动物中，它们提供了研究自身免疫和免疫缺陷的分子机制的独特机会。我们认为，这些令人兴奋的机会，探讨免疫缺陷疾病和自身免疫性疾病之间的关系，使这个主题的会议特别及时。座谈会的目标是确定代表未满足需求或目前正在探索的关键研究领域。会议将汇集不同专业的专家研究人员，以确定可能解释免疫缺陷和自身免疫共同发生的基本问题。与此同时，转化研究的新机会将出现，使可能发展为自身免疫性疾病的免疫缺陷患者或有免疫缺陷风险的自身免疫性疾病患者受益。通过将遗传学家，血液学家，传染病专家和免疫学家与分子科学家聚集在一起，我们打算挑战和扩展我们目前对免疫反应调节的看法。

DESCRIPTION (provided by applicant): Although autoimmunity is as an over response of the immune system and immunodeficiency is an under response, immunodeficiency diseases and autoimmune diseases are not mutually exclusive since both represent profound dysregulation of the immune response. Immunodeficiencies are associated with impaired function of one of the cells or soluble mediators the immune system. For example, approximately 20 % of patients with common variable immunodeficiency (CVID), a B cell defect, develop an autoimmune condition such as idiopathic thrombocytopenia (ITP), hemolytic anemia, rheumatoid arthritis, sicca syndrome, primary biliary cirrhosis, and pernicious anemia. Systemic lupus erythematosis (SLE) may also co-occur with CVID, but the development of SLE may precede or follow the development of CIVD, illustrating the two way relationship between autoimmunity and immunodeficiency based on fundamental defects in immunoregulation deficiency. New opportunities to study genetic mechanisms that help to explain the connection between T cell deficiencies in autoimmune disease are rapidly emerging. In addition to the human disorders some of these genetic defects have been reproduced in experimental animals where they are providing the unique opportunity to study the molecular mechanisms underlying in both autoimmunity and immunodeficiency. We believe that these exciting opportunities to explore the relationship between immunodeficiency diseases and autoimmune diseases makes a meeting on this topic particularly timely. The goal of the colloquium is to identify critical research areas that represent unmet needs or are presently under explored. The meeting will bring together expert investigators in different specialties to identify the basic issues that may explain the co-occurrence of immunodeficiency and autoimmunity. At the same time new opportunities for translational research will arise to benefit immunodeficiency patients who may develop autoimmune disease or autoimmune disease patients at risk for immunodeficiency. By bringing together geneticists, hematologists, infectious disease specialists, and immunologists together with molecular scientists we intend to challenge and expand the way we presently think about the regulation of immune responses.