Department of Hematology and Oncology, Children's University Hospital, Hamburg, Germany.
Annu Rev Med. 2012;63:233-46. doi: 10.1146/annurev-med-041610-134208.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome in which an uncontrolled and ineffective immune response, triggered in most cases by infectious agents, leads to severe hyperinflammation. Familial forms of HLH (FHL), which are increasingly found also in adolescents and adults, are due to genetic defects leading to impaired function of natural killer cells and cytotoxic T cells. These mutations occur either in the perforin gene or in genes important for the exocytosis of cytotoxic granules. Cytotoxic granules contain perforin and granzymes, which induce apoptosis upon entering (infected) target cells. Additionally, perforin is important for the downregulation of the immune response. Acquired forms of HLH are encountered in association with (usually) viral infections, autoinflammatory/autoimmune diseases, malignant diseases, and acquired immune deficiency states (e.g., after organ transplantation). Treatment of HLH includes immune-suppressive and immune-modulatory agents, cytostatic drugs, and biological response modifiers. For patients with FHL, stem cell transplantation is indicated and can be curative.
噬血细胞性淋巴组织细胞增生症（HLH）是一种危及生命的综合征，其特征是在大多数情况下由感染因子触发的不受控制和无效的免疫反应导致严重的炎症过度反应。家族性 HLH（FHL），也越来越多地在青少年和成年人中发现，是由于遗传缺陷导致自然杀伤细胞和细胞毒性 T 细胞功能受损。这些突变发生在穿孔素基因或细胞毒性颗粒外排的重要基因中。细胞毒性颗粒包含穿孔素和颗粒酶，它们在进入（感染）靶细胞时诱导细胞凋亡。此外，穿孔素对于下调免疫反应很重要。获得性 HLH与（通常）病毒感染、自身炎症/自身免疫性疾病、恶性疾病和获得性免疫缺陷状态（例如，器官移植后）有关。HLH 的治疗包括免疫抑制和免疫调节药物、细胞毒性药物和生物反应调节剂。对于 FHL 患者，干细胞移植是指征，并且可以治愈。
