Department of Hematology, Capital Medical University Affiliated Beijing Friendship Hospital, Beijing, China.
Front Immunol. 2023 Nov 23;14:1271324. doi: 10.3389/fimmu.2023.1271324. eCollection 2023.
Germline mutation has been reported to be associated with subcutaneous panniculitis-like T-cell lymphoma (SPTCL) leading to Hemophagocytic lymphohistiocytosis (HLH). Several studies have indicated that mutation can cause HLH even in the absence of lymphoma, though the exact mechanism remains unclear. In this article, we reported five cases of mutation-associated HLH. Our analysis revealed an elevated level of IL-1RA in the serum of these patients. Furthermore, we investigated the potential mechanisms underlying HLH associated with mutation based on changes in cytokine levels. Our findings suggest that mutation may represent a distinct genetic defect underlying HLH, differing from traditional primary HLH.
胚系突变已被报道与皮下脂膜炎样 T 细胞淋巴瘤（SPTCL）相关，导致噬血细胞性淋巴组织细胞增生症（HLH）。几项研究表明，即使没有淋巴瘤， 突变也能导致 HLH，尽管确切的机制尚不清楚。在本文中，我们报告了五例与 突变相关的 HLH。我们的分析显示，这些患者血清中 IL-1RA 水平升高。此外，我们还基于细胞因子水平的变化，研究了与 突变相关的 HLH 的潜在机制。我们的研究结果表明， 突变可能代表 HLH 的一种独特的遗传缺陷，与传统的原发性 HLH 不同。
