Molecular Immunology Unit, UCL Institute of Child Health, Great Ormond Street Hospital NHS Trust, London, UK.
Br J Haematol. 2010 Nov;151(4):312-26. doi: 10.1111/j.1365-2141.2010.08361.x. Epub 2010 Aug 31.
Neutrophils are amongst the first immune cells to arrive at sites of infection and play an important role as the host's first line of defence against invading pathogens. Defects of neutrophil number or function are usually recognized clinically by recurrent infections that often are life-threatening. Over the last few years, a number of genetic mutations have been discovered to be the basis for congenital neutropenia, adding to our understanding of the molecular basis of these diseases. While many genetic mutations that cause severe congenital neutropenia result in a differentiation block at the promyelocyte stage, defects of neutrophil function are more heterogeneous on clinical, genetic and mechanistic levels. In this review we discuss recent advances in our understanding of the genetic and molecular basis of human neutrophil disorders.
中性粒细胞是最早到达感染部位的免疫细胞之一，作为宿主抵御入侵病原体的第一道防线，发挥着重要作用。中性粒细胞数量或功能的缺陷通常通过反复感染被临床识别出来，这些感染往往具有生命威胁。在过去的几年中，发现了许多遗传突变是先天性中性粒细胞减少症的基础，这增加了我们对这些疾病分子基础的理解。虽然导致严重先天性中性粒细胞减少症的许多遗传突变导致早幼粒细胞阶段的分化阻滞，但中性粒细胞功能缺陷在临床、遗传和机制水平上更加多样化。在这篇综述中，我们讨论了对人类中性粒细胞疾病的遗传和分子基础的最新认识。
