Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. doi: 10.1016/j.jaci.2009.07.053. Epub 2009 Dec 29.
In the last years, advances in molecular genetics and immunology have resulted in the identification of a growing number of genes causing primary immunodeficiencies (PIDs) in human subjects and a better understanding of the pathophysiology of these disorders. Characterization of the molecular mechanisms of PIDs has also facilitated the development of novel diagnostic assays based on analysis of the expression of the protein encoded by the PID-specific gene. Pilot newborn screening programs for the identification of infants with severe combined immunodeficiency have been initiated. Finally, significant advances have been made in the treatment of PIDs based on the use of subcutaneous immunoglobulins, hematopoietic cell transplantation from unrelated donors and cord blood, and gene therapy. In this review we will discuss the pathogenesis, diagnosis, and treatment of PIDs, with special attention to recent advances in the field.
在过去的几年中，分子遗传学和免疫学的进展使得越来越多的导致人类原发性免疫缺陷（PID）的基因得以鉴定，并且人们对这些疾病的病理生理学有了更好的理解。PID 分子机制的表征也促进了基于 PID 特异性基因编码蛋白表达分析的新型诊断检测方法的发展。已经启动了用于识别严重联合免疫缺陷婴儿的新生儿筛查计划。最后，基于使用皮下免疫球蛋白、来自无关供体和脐带血的造血细胞移植以及基因治疗，PID 的治疗取得了重大进展。在这篇综述中，我们将讨论 PID 的发病机制、诊断和治疗，特别关注该领域的最新进展。
