Department of Allergy-Immunology, Walter Reed Army Medical Center, Washington, DC 20307, USA.
Autoimmun Rev. 2010 May;9(7):488-93. doi: 10.1016/j.autrev.2010.02.007. Epub 2010 Feb 17.
The autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic, non-malignant lymphoproliferation, autoimmunity often manifesting as multilineage cytopenias, and an increased risk of lymphoma. While considered a rare disease, there are currently over 250 patients with ALPS being followed at the National Institutes of Health in Bethesda, Maryland. Most of these patients have a mutation in the gene for the TNF receptor-family member Fas (CD 95, Apo-1), and about one-third have an unknown defect or mutations affecting function of other signaling proteins involved in the apoptotic pathway. While ALPS is one of the few autoimmune diseases with a known genetic defect, there remain unanswered questions regarding how a defect in apoptosis results in the observed phenotype. In addition to shedding light on the pathophysiology of this rare and fascinating condition, studying ALPS may improve our understanding of normal tolerance and more common, sporadic autoimmune disorders.
自身免疫性淋巴组织增生综合征（ALPS）的特征为慢性、非恶性的淋巴增生，常表现为多系血细胞减少症和淋巴瘤风险增加。尽管被认为是一种罕见疾病，但目前在马里兰州贝塞斯达的美国国立卫生研究院有超过 250 名 ALPS 患者正在接受随访。这些患者大多数有 TNF 受体家族成员 Fas（CD95、Apo-1）基因突变，约三分之一的患者存在未知缺陷或影响凋亡途径中其他信号蛋白功能的突变。虽然 ALPS 是少数几种已知遗传缺陷的自身免疫性疾病之一，但对于凋亡缺陷如何导致观察到的表型，仍存在一些尚未解答的问题。除了阐明这种罕见而引人入胜的疾病的病理生理学外，研究 ALPS 可能有助于我们更好地理解正常的耐受和更常见的、散发性自身免疫性疾病。
