PDF(Pubmed)
Abstract：
Lymphoproliferation is defined by lymphadenopathy, splenomegaly, hepatomegaly, or lymphocytic organ and tissue infiltration. The most common etiologies of lymphoproliferation are represented by infectious diseases and lymphoid malignancies. However, it is increasingly recognized that lymphoproliferative features can be the presenting sign of rare conditions, including inborn errors of immunity (IEI) and inborn errors of metabolism (IEM). Among IEI, lymphoproliferation is frequently observed in autoimmune lymphoproliferative syndrome (ALPS) and related disorders, common variable immunodeficiency (CVID), activated phosphoinositide 3-kinase δ syndrome, and Epstein-Barr virus (EBV)-related disorders. Gaucher disease and Niemann-Pick disease are the most common IEMs that can present with isolated lymphoproliferative features. Notably, other rare conditions, such as sarcoidosis, Castleman disease, systemic autoimmune diseases, and autoinflammatory disorders, should be considered in the differential diagnosis of patients with persistent lymphoproliferation when infectious and malignant diseases have been reasonably ruled out. The clinical features of lymphoproliferative diseases, as well as the associated clinical findings and data deriving from imaging and first-level laboratory investigations, could significantly help in providing the correct diagnostic suspicion for the underlying etiology. This paper reviews the most relevant diseases associated with lymphoproliferation, including infectious diseases, hematological malignancies, IEI, and IEM. Moreover, some practical indications to orient the initial diagnostic process are provided, and two diagnostic algorithms are proposed for the first-level assessment and the approach to persistent lymphoproliferation, respectively.
摘要：
淋巴增生定义为淋巴结病，脾肿大,肝肿大,或淋巴细胞器官和组织浸润。最常见的淋巴增生病因学表现为感染性疾病和淋巴恶性肿瘤。然而,越来越多的人认识到，淋巴增生的特征可能是罕见疾病的表现，包括先天性免疫错误（IEI）和先天性代谢错误（IEM）。在IEI中,在自身免疫性淋巴增生综合征（ALPS）和相关疾病中经常观察到淋巴增生，常见可变免疫缺陷(CVID)，激活的磷酸肌醇3-激酶δ综合征，和EB病毒（EBV）相关疾病。戈谢病和尼曼-匹克病是最常见的IEM，可以表现出孤立的淋巴增生特征。值得注意的是,其他罕见的情况，比如结节病，Castleman病,全身性自身免疫性疾病，和自身炎症性疾病，在合理排除感染性疾病和恶性疾病的情况下，应考虑对持续性淋巴增生患者的鉴别诊断。淋巴增生性疾病的临床特征,以及来自影像学和一级实验室检查的相关临床发现和数据，可以显着帮助为潜在病因提供正确的诊断怀疑。本文综述了与淋巴细胞增殖相关的最相关的疾病。包括传染病,血液恶性肿瘤，IEI,IEM。此外，提供了一些指导初始诊断过程的实际迹象，并提出了两种诊断算法用于一级评估和持续淋巴细胞增殖的方法，分别。
