Magnarelli Aimee, Shalen Julia, Gutierrez Maria J
Division of Pediatric Allergy, Immunology and Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Case Rep Pediatr. 2024 Mar 28;2024:9946401. doi: 10.1155/2024/9946401. eCollection 2024.
Cytokine storm syndromes (CSS) are life-threatening systemic inflammatory disorders caused by immune system dysregulation. They can lead to organ failure and are triggered by various factors, including infections, malignancy, inborn errors of immunity, and autoimmune conditions. Trisomy 21 (TS21), also known as Down syndrome, is a genetic disorder associated with immune dysfunction, increased infection susceptibility, and inflammation. While TS21 has been linked to infectious-triggered hyperinflammation, its role as a primary cause of CSS has not been confirmed. . We present a case of a 16-year-old male with TS21 with fever, rash, joint pain, and abdominal symptoms. Extensive investigations ruled out infections, autoimmune conditions, malignancies, and inborn errors of immunity as triggers for a CSS. The patient's symptoms improved with treatment using IL-1 inhibition and corticosteroids.
This case reinforces that TS21 is an immune dysregulation disorder and highlights the importance of considering CSS in TS21 patients, even when triggers are unclear. The positive response to IL-1 inhibition in this patient suggests that dysregulation of the IL-1 superfamily and the NLRP3 inflammasome may contribute to CSS in TS21. This finding raises the possibility of using IL-1 inhibition as a treatment approach for CSS in TS21 patients.
细胞因子风暴综合征（CSS）是由免疫系统失调引起的危及生命的全身性炎症性疾病。它们可导致器官衰竭，并由多种因素触发，包括感染、恶性肿瘤、先天性免疫缺陷和自身免疫性疾病。21三体综合征（TS21），也称为唐氏综合征，是一种与免疫功能障碍、感染易感性增加和炎症相关的遗传性疾病。虽然TS21与感染引发的过度炎症有关，但其作为CSS主要原因的作用尚未得到证实。我们报告一例16岁患有TS21的男性患者，出现发热、皮疹、关节疼痛和腹部症状。广泛的检查排除了感染、自身免疫性疾病、恶性肿瘤和先天性免疫缺陷作为CSS的触发因素。患者的症状通过使用IL-1抑制和皮质类固醇治疗得到改善。
该病例强化了TS21是一种免疫失调疾病，并强调了在TS21患者中考虑CSS的重要性，即使触发因素不明。该患者对IL-1抑制的阳性反应表明，IL-1超家族和NLRP3炎性小体的失调可能导致TS21中的CSS。这一发现增加了将IL-1抑制作为TS21患者CSS治疗方法的可能性。
