Bride Karen, Teachey David
Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
F1000Res. 2017 Nov 1;6:1928. doi: 10.12688/f1000research.11545.1. eCollection 2017.
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, splenomegaly, and autoimmune pathology, most commonly, autoimmune cytopenias. Since ALPS was first characterized in the early 1990s, insights in disease biology have improved both diagnosis and management of this syndrome. Sirolimus is the best-studied and most effective corticosteroid-sparing therapy for ALPS and should be considered first-line for patients in need of chronic treatment. This review highlights practical clinical considerations for the diagnosis and management of ALPS. Further studies could reveal new proteins and regulatory pathways that are critical for lymphocyte activation and apoptosis.
自身免疫性淋巴细胞增生综合征（ALPS）是一种遗传性综合征，其特征是凋亡机制无法维持淋巴细胞内稳态，导致淋巴细胞存活异常。这种异常导致非感染性和非恶性淋巴结病、脾肿大以及自身免疫性病理表现，最常见的是自身免疫性血细胞减少症。自20世纪90年代初首次对ALPS进行特征描述以来，对疾病生物学的认识已改善了该综合征的诊断和管理。西罗莫司是对ALPS研究最充分且最有效的糖皮质激素替代疗法，对于需要长期治疗的患者应考虑作为一线治疗药物。本综述重点介绍了ALPS诊断和管理的实际临床注意事项。进一步的研究可能会揭示对淋巴细胞激活和凋亡至关重要的新蛋白质和调节途径。
