Objectives We present the first case of a Majeed syndrome in a girl of central-European ancestry. Methods Patient’s medical records were reviewed. A next-generation sequencing (NGS) panel for autoinflammatory diseases was performed and the mutation was confirmed by Sanger analysis. Freshly isolated monocytes were activated with lipopolysaccharide ± ATP. The concentration of inflammatory cytokines was assessed in monocyte supernatants. Results A 2-year-old girl presented with pain in the lower limbs, increase of acute phase reactants and persistent microcytic anaemia. The MRI showed bilateral short time inversion recovery (STIR) hyper-intensity of the spongy osseous tissue of the femur, tibia, radius, ulna and astragalus. Bone marrow analysis revealed increased trilinear cellularity with signs of dyserythropoietic anaemia. The NGS panel detected the presence of two novel compound heterozygous mutations in the LPIN2 gene, confirmed by Sanger analysis. Treatment with anakinra was started with a prompt resolution of the clinical picture. Increased kinetics and concentration of IL-1β were observed in the patient’s monocytes compared with healthy controls, with a marked drop following the start of therapy. About 6 months after the start of the therapy, resolution of MRI findings, microcytic anaemia and dyserythropoiesis at bone marrow aspirate were observed. Conclusion We describe the first case of Majeed syndrome in a patient of central-European ancestry. The functional test on circulating monocytes before and after therapy with anakinra confirmed pathogenicity of the mutation and the role of LPIN2 in the NLRP3 inflammasome activation. Anti-IL1 agents were effective, leading not only to the resolution of bone lesions but also to an improvement of dyserythropoiesis.

中文翻译：

---

Majeed 综合征：中欧血统患者的首次描述


目的 我们介绍了第一例中欧血统的女孩的 Majeed 综合征病例。方法 回顾患者的病历。对自身炎症性疾病进行了下一代测序 （NGS） 面板，并通过 Sanger 分析证实了突变。新鲜分离的单核细胞用脂多糖 ± ATP 激活。评估单核细胞上清液中炎性细胞因子的浓度。结果 一名 2 岁女童表现为下肢疼痛、急性期反应物增加和持续性小细胞性贫血。MRI 显示股骨、胫骨、桡骨、尺骨和黄芪的海绵骨组织双侧短时倒置恢复 （STIR） 高信号。骨髓分析显示三线细胞增加，伴有红细胞生成障碍性贫血的迹象。NGS 检测组检测到 LPIN2 基因中存在两种新的化合物杂合突变，经 Sanger 分析证实。阿那白滞素治疗在临床表现迅速消退后开始。与健康对照相比，在患者的单核细胞中观察到 IL-1β 的动力学和浓度增加，治疗开始后显着下降。治疗开始后约 6 个月，观察到 MRI 结果消退、小细胞性贫血和骨髓穿刺时红细胞生成障碍。结论 我们描述了第一例中欧血统患者的 Majeed 综合征病例。阿那白滞素治疗前后循环单核细胞的功能测试证实了突变的致病性以及 LPIN2 在 NLRP3 炎性小体激活中的作用。抗 IL1 药物有效，不仅导致骨病变消退，还改善红细胞生成障碍。