Clin Immunol. 2013 Feb;146(2):73-6. doi: 10.1016/j.clim.2012.11.004. Epub 2012 Nov 15.
Macrophage activation syndrome (MAS) has been observed in patients with systemic lupus erythematosus (SLE). Recognition of MAS in patients with SLE may be particularly challenging because it may mimic the clinical features of the underlying disease or be confused with an infectious complication. Massive hypercytokinemia is strongly associated with the pathogenesis of systemic lupus erythematosus-associated macrophage activation syndrome (SLE-MAS) but the pathogenesis and kinetics of cytokine release in SLE-MAS patients is not well studied. We present a case of SLE-MAS. The patient showed the distinct cytokine profile of SLE-MAS compared to systemic juvenile idiopathic arthritis associated MAS and Epstein-Barr virus-induced hemophagocytic lymphohistiocytosis. The observed TNF-α dominant increase appears to be characteristic of SLE-MAS. IgM type antilymphocyte antibody (ALAB) was detected on the surface of lymphocytes during the acute phase and disappeared when the patient was in remission. The patient had a heterozygous P369S-R408Q mutation in the MEFV gene. Our results suggest that ALAB and a MEFV mutation might play important roles in the pathogenesis of SLE-MAS. Furthermore, the cytokine profile of SLE-MAS differs from that of S-JIA-MAS: the TNF-α dominant increase appears to be characteristic.
巨噬细胞活化综合征（MAS）已在系统性红斑狼疮（SLE）患者中观察到。SLE 患者中 MAS 的识别可能特别具有挑战性，因为它可能模仿潜在疾病的临床特征，或与感染性并发症混淆。大量细胞因子血症与系统性红斑狼疮相关的巨噬细胞活化综合征（SLE-MAS）的发病机制密切相关，但 SLE-MAS 患者细胞因子释放的发病机制和动力学尚未得到很好的研究。我们报告了一例 SLE-MAS。与系统性幼年特发性关节炎相关的 MAS 和 EBV 诱导的噬血细胞性淋巴组织细胞增生症相比，该患者表现出明显的 SLE-MAS 细胞因子谱。观察到的 TNF-α优势增加似乎是 SLE-MAS 的特征。在急性期，淋巴细胞表面检测到 IgM 型抗淋巴细胞抗体（ALAB），当患者缓解时消失。该患者在 MEFV 基因中存在杂合 P369S-R408Q 突变。我们的结果表明，ALAB 和 MEFV 突变可能在 SLE-MAS 的发病机制中发挥重要作用。此外，SLE-MAS 的细胞因子谱与 S-JIA-MAS 不同：TNF-α优势增加似乎是特征性的。
