PDF(Pubmed)
Abstract：
Chronic granulomatous disease (CGD) is a rare inborn error of immunity that typically manifests with infectious complications. As the name suggest though, inflammatory complications are also common, often affecting the gastrointestinal, respiratory, urinary tracts and other tissues. These can be seen in all various types of CGD, from X-linked and autosomal recessive to X-linked carriers. The pathogenetic mechanisms underlying these complications are not well understood, but are likely multi-factorial and reflect the body\'s attempt to control infections. The different levels of neutrophil residual oxidase activity are thought to contribute to the large phenotypic variations. Immunosuppressive agents have traditionally been used to treat these complications, but their use is hindered by the fact that CGD patients are predisposed to infection. Novel therapeutic agents, like anti-TNFa monoclonal antibodies, anakinra, ustekinumab, and vedolizumab offer promise for the future, while hematopoietic stem cell transplantation should also be considered in these patients.
摘要：
慢性肉芽肿病（CGD）是一种罕见的先天性免疫错误，通常表现为感染性并发症。正如名字所暗示的，炎症并发症也很常见，经常影响胃肠道，呼吸,尿道和其他组织。这些可以在所有各种类型的CGD中看到，从X连锁和常染色体隐性遗传到X连锁携带者。这些并发症背后的致病机制还没有很好的理解，但可能是多因素的，反映了身体控制感染的尝试。中性粒细胞残留氧化酶活性的不同水平被认为是导致大的表型变异的原因。传统上使用免疫抑制剂来治疗这些并发症，但CGD患者易患感染的事实阻碍了它们的使用。新型治疗剂，如抗TNFa单克隆抗体，anakinra,ustekinumab,维多珠单抗为未来提供了希望，而造血干细胞移植也应考虑在这些患者。
