Patel Bhavisha A, Giudice Valentina, Young Neal S
Haematology Branch, National Heart Lung and Blood Institutes, National Institutes of Health, USA.
Department of Medicine, Surgery, and Dentistry, "Scuola Medica Salernitana", University of Salerno, Italy.
Best Pract Res Clin Haematol. 2021 Jun;34(2):101276. doi: 10.1016/j.beha.2021.101276. Epub 2021 Jun 3.
Acquired bone marrow failure (BMF) syndromes comprise a diverse group of diseases with variable clinical manifestations but overlapping features of immune activation, resulting in haematopoietic stem and progenitor cells (HSPC) damage and destruction. This review focuses on clinical presentation, pathophysiology, and treatment of four BMF: acquired aplastic anaemia, large granular lymphocytic leukaemia, paroxysmal nocturnal haemoglobinuria, and hypoplastic myelodysplastic syndrome. Autoantigens are speculated to be the inciting event that result in immune activation in all of these diseases, but specific pathogenic antigens have not been identified. Oligoclonal cytotoxic T cell expansion and an active role of proinflammatory cytokines, primarily interferon gamma (IFN-γ) and tumor necrosis factor alpha (TNF-α), are two main contributors to HSPC growth inhibition and apoptosis in BMF. Emerging evidence also suggests involvement of the innate immune system.
获得性骨髓衰竭（BMF）综合征是一组多样的疾病，临床表现各异，但具有免疫激活的重叠特征，导致造血干细胞和祖细胞（HSPC）受损和破坏。本综述聚焦于四种BMF的临床表现、病理生理学和治疗：获得性再生障碍性贫血、大颗粒淋巴细胞白血病、阵发性睡眠性血红蛋白尿和低增生性骨髓增生异常综合征。推测自身抗原是导致所有这些疾病免疫激活的起始事件，但尚未鉴定出特定的致病抗原。寡克隆细胞毒性T细胞扩增以及促炎细胞因子（主要是干扰素γ（IFN-γ）和肿瘤坏死因子α（TNF-α））的积极作用是BMF中HSPC生长抑制和凋亡的两个主要因素。新出现的证据还表明先天性免疫系统也参与其中。
