Trojovsky Kajetan, Seidl Maximilian, Babor Florian, Ehl Stephan, Lee-Kirsch Min Ae, Friedt Michael, Laws Hans-Juergen, Naami Nibras, Oommen Prasad Thomas, Ghosh Sujal
Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.
Institute of Pathology, Heinrich Heine University and University Hospital of Duesseldorf, Duesseldorf, Germany.
Front Pediatr. 2025 Jan 7;12:1516017. doi: 10.3389/fped.2024.1516017. eCollection 2024.
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations. Patient 1, a 16-year-old male from Guinea, presented with Evans Syndrome, musculoskeletal pain and elevated liver enzymes. Patient 2, a 6-year-old German boy, developed recurrent oral aphthous ulcers, mild inflammatory bowel disease and chronic recurrent multifocal osteomyelitis. Both patients were diagnosed with SOCS1 deficiency by genetic testing. Treatment strategies included steroids, JAK inhibition and colchicine. These cases emphasize the importance of considering SOCS1 deficiency in patients with autoimmune or autoinflammatory diseases but also in patients with unexplained elevated IgE levels. They highlight the need for further research in ongoing multicenter registries to better understand this condition.
细胞因子信号转导抑制因子（SOCS）蛋白在调节免疫信号通路中起关键作用。SOCS1缺乏会导致各种自身免疫性疾病。我们报告了两名临床表现不同的无关患者。患者1是一名来自几内亚的16岁男性，患有伊文氏综合征、肌肉骨骼疼痛和肝酶升高。患者2是一名6岁的德国男孩，出现复发性口腔溃疡、轻度炎症性肠病和慢性复发性多灶性骨髓炎。两名患者均通过基因检测诊断为SOCS1缺乏。治疗策略包括使用类固醇、抑制JAK和秋水仙碱。这些病例强调了在自身免疫性或自身炎症性疾病患者中，以及在不明原因IgE水平升高的患者中考虑SOCS1缺乏的重要性。它们凸显了在正在进行的多中心登记研究中进一步开展研究以更好地了解这种疾病的必要性。
