Conti Francesca, Moratti Mattia, Sabattini Elena, Zinzani Pier Luigi
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.
Front Immunol. 2025 Jan 13;15:1517543. doi: 10.3389/fimmu.2024.1517543. eCollection 2024.
Activated PI3K delta syndrome (APDS) is a primary immunodeficiency that is caused by mutations in the PI3K signalling pathway resulting in either gain-of-function or loss-of-function phenotypes of APDS 1 and 2. Malignancy is one of the most serious complications associated with APDS patients, with the most commonly occurring of these being lymphoma, and is the most common cause of death in APDS patients. Management of APDS is complex and variable due to the heterogeneous nature of the disease and ranges from antimicrobial and immunosuppressant agents to haematopoetic stem cell transplantation. More recently, an increasing level of interest has been shown in the use of more targeted agents such as PI3Kδ-specific inhibitors. Here, we provide expert perspective on the suspected causality of a case of lymphoma observed in a 20-year-old female patient who was included in a clinical trial of leniolisib, a PI3K inhibitor.
活化磷脂酰肌醇-3激酶δ综合征（APDS）是一种原发性免疫缺陷病，由PI3K信号通路中的突变引起，导致APDS 1和2出现功能获得或功能丧失表型。恶性肿瘤是与APDS患者相关的最严重并发症之一，其中最常见的是淋巴瘤，也是APDS患者最常见的死亡原因。由于该疾病的异质性，APDS的管理复杂且多样，范围从抗菌和免疫抑制剂到造血干细胞移植。最近，人们对使用更具针对性的药物（如PI3Kδ特异性抑制剂）的兴趣日益增加。在此，我们就一名20岁女性患者在PI3K抑制剂来那度胺的临床试验中出现的淋巴瘤病例的疑似因果关系提供专家观点。
