自身免疫淋巴增殖综合征（ALPS）是一种自身免疫疾病，已在2200多名患者中报道。这是一种罕见的遗传病，在凋亡的外源途径中发生病理性突变。不同基因中的各种突变，如FAS、FASL和CASP10，可能导致ALPS。最常见的病理性变体发生在FAS受体中。这种功能失常的途径导致淋巴细胞异常积聚，即CD3+TCRαβ+CD4-CD8-（双阴性（DN）T细胞），这是该疾病的特征。该疾病通常以淋巴结肿大和脾脏肿大为特征，在儿童期出现，是淋巴增殖的结果。随着时间的推移，这些患者可能因免疫系统的异常而发展为细胞减少症或淋巴瘤。目前的治疗方法包括糖皮质激素、麦考酚酯、西罗莫司、免疫球蛋白G和利妥昔单抗。这些药物用于治疗症状，目前没有针对ALPS的标准治疗建议。唯一的治愈疗法是骨髓移植，但由于并发症的问题，这种治疗很少进行。本综述通过讨论免疫调节机制、症状表现和治疗机制，扩展对ALPS的认识。此外，我们还使用来自Cosmos的数据，讨论了美国ALPS患者的流行病学、合并症和相关药物。版权所有 © 2023。Elsevier B.V.发表。

Autoimmune Lymphoproliferative Syndrome (ALPS) is an autoimmune disease that has been reported in over 2200 patients. It is a rare, genetic disease where pathogenic variants occur in the extrinsic pathway of apoptosis. Various mutations in different genes, such as FAS, FASL, and CASP10, can result in ALPS. Most commonly, pathogenic variants occur in the FAS receptor. This malfunctioning pathway allows for the abnormal accumulation of lymphocytes, namely CD3 + TCRαβ+CD4 - CD8- (double negative (DN) T) cells, which are a hallmark of the disease. This disease usually presents in childhood with lymphadenopathy and splenomegaly as a result of lymphoproliferation. Over time, these patients may develop cytopenias or lymphomas because of irregularities in the immune system. Current treatments include glucocorticoids, mycophenolate mofetil, sirolimus, immunoglobulin G, and rituximab. These medications serve to manage the symptoms and there are no standardized recommendations for the management of ALPS. The only curative therapy is a bone marrow transplant, but this is rarely done because of the complications. This review serves to broaden the understanding of ALPS by discussing the mechanism of immune dysregulation, how the symptoms manifest, and the mechanisms of treatment. Additionally, we discuss the epidemiology, comorbidities, and medications relating to ALPS patients across the United States using data from Cosmos.Copyright © 2023. Published by Elsevier B.V.