Disease Presentation, Treatment Options, and Outcomes for Myeloid Immunodeficiencies.
Disease Presentation, Treatment Options, and Outcomes for Myeloid Immunodeficiencies.
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DOI：
10.1007/s11882-020-00984-8
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发表时间：
2021-03-05
影响因子：
5.5
通讯作者：
Kang EM
中科院分区：
文献类型：
--
作者：
Kang EM
对具有显著髓系成分的各种类型的免疫缺陷包括一些最近描述的先天性疾病的最新综述。中性粒细胞（或粒细胞）是感染监测和清除的主要贡献者，缺陷性中性粒细胞通常导致化脓性感染。数量不足，无论是医源性或先天性，功能缺陷，和/或无法靶向感染部位都可能导致严重的发病率和死亡率;然而，骨髓免疫缺陷并不完全相同。缺乏中性粒细胞，即中性粒细胞减少症，具有不同于具有功能失调的中性粒细胞的含义，这将随着对各种疾病的回顾而变得明显。虽然过去已经描述了许多疾病，但基因测序已经导致了特定疾病的鉴定并阐明了其病理生理学。包括基因编辑在内的遗传疗法的进展应该为这些罕见疾病患者提供造血干细胞移植以外的未来治疗方法
Up to date review on various types of immunodeficiencies with a significant myeloid component including some more recently described congenital disorders. Neutrophils (or granulocytes) are a major contributor to infection surveillance and clearance and defective neutrophils characteristically lead to pyogenic infections. Deficiency in numbers, either iatrogenic or congenital, functional defects, and/or inability to target to the sites of infection can all lead to serious morbidity and mortality; however, myeloid based immunodeficiencies are not all the same. Having absent neutrophils, that is neutropenia, has implications different to those of having dysfunctional neutrophils as will become evident as the various disorders are reviewed. While a number of disorders have been described in the past, genetic sequencing has led to the identification of the specific disorders and clarified their pathophysiology. Advances in genetic therapies including genetic editing should provide future treatments beyond hematopoieitic stem cell transplant for patients with these rare disorders
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