Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery
Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery
复制标题
DOI：
10.1007/s12026-014-8498-z
复制
发表时间：
2014-10-01
影响因子：
4.4
通讯作者：
Notarangelo, Luigi D.
中科院分区：
文献类型：
--
作者：
Modell, Vicki;Knaus, Megan;Notarangelo, Luigi D.
原发免疫缺陷(PI)是免疫系统的缺陷，如果诊断和治疗不当，会导致严重感染。许多PI患者未被诊断、被低估或被误诊。在过去的十年里，杰弗里·莫德尔基金会实施了一项医生教育和公共意识运动(PEPAC)，以提高人们的意识，确保早期诊断、适当的治疗和管理，总体目标是减少与PI相关的发病率和死亡率。为了评估PEPAC计划，每年都需要杰弗里·莫德尔中心网络(JMCN)内的内科专家提供数据。JMCN由556名专家医生组成，分布在196个城市和78个国家和地区的234个学术机构，横跨六大洲，为PI患者的转诊、诊断和适当治疗提供基础设施。此外，JMCN在这些中心发现了新的基因，为免疫学领域做出了重大贡献。这些进展使人们对免疫系统有了更好的了解，并将继续提高PI患者的生活质量。
Primary immunodeficiencies (PI) are defects of the immune system that cause severe infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, under-diagnosed, or misdiagnosed. Over the last decade, the Jeffrey Modell Foundation has implemented a Physician Education and Public Awareness Campaign (PEPAC) to raise awareness, assure early diagnosis, appropriate treatment, and management, with the overall goal to reduce morbidities and mortalities related to PI. In order to evaluate the PEPAC program, data are requested annually from physician experts within the Jeffrey Modell Centers Network (JMCN). The JMCN, consisting of 556 expert physicians, at 234 academic institutions, in 196 cities, and 78 countries spanning six continents, provides the infrastructure for referral, diagnosis, and appropriate treatment for patients with PI. In addition, the JMCN has made a significant contribution to the field of immunology with the discovery of new genes at the centers. These advancements have led to an overall better understanding of the immune system and will continue to improve quality of life of those with PI.