Accardo V, Pagnini I, Maccora I, Marrani E, Mastrolia M V, Simonini G
Rheumatology Unit, Meyer Children’s Hospital IRCCS, Florence, Italy.
Front Pediatr. 2024 Feb 26;12:1353825. doi: 10.3389/fped.2024.1353825. eCollection 2024.
This study aims to describe clinical features, therapeutic outcomes, and safety profiles in patients affected by juvenile idiopathic arthritis (JIA) and inborn errors of immunity (IEI) treated with biological Disease-modifying antirheumatic drugs (DMARDs).
We enrolled three patients who were followed in the Pediatric Rheumatology Unit at Meyer Children's Hospital in Florence; these patients were affected by JIA, according to ILAR criteria, and IEI, according to the IUIS Phenotypical Classification for Human Inborn Errors of Immunity. Among them, two patients had 22q11.2 deletion syndrome (22q11.2DS) and one patient had X-linked agammaglobulinemia (XLA).
Case 1: A 6-year and 2-month-old boy was affected by 22q11.2DS, associated with oligoarticular JIA, at the age of 2 years. He was treated with non-steroidal anti-inflammatory drugs (NSAIDs) and methotrexate, along with oral glucocorticoids but with no benefits. Treatment with etanercept allowed him to achieve remission after 10 months. Case 2: A 6-year and 2-month-old girl was affected by 22q11.2DS, associated with oligoarticular JIA, at the age of 3 years and 11 months. She was treated with NSAIDs, joint injections, and methotrexate but without clinical response. Treatment with Adalimumab allowed her to achieve remission after 6 months. Case 3: A 12-year and 2-month-old boy was affected by XLA, associated with polyarticular JIA, at the age of 9 years and 11 months. He was treated with NSAIDs, methotrexate, joint injections, and oral glucocorticoids with no benefits. He failed to respond to anti-TNF-alpha, tocilizumab, and abatacept. Currently, he is undergoing therapy with sirolimus plus abatacept, which allowed him to achieve remission after 4 months.
Results suggest that the use of immunosuppressive biological therapies can control disease activity in these patients. No adverse drug-related reactions were observed during the follow-up.
本研究旨在描述接受生物性改善病情抗风湿药物（DMARDs）治疗的幼年特发性关节炎（JIA）和先天性免疫缺陷（IEI）患者的临床特征、治疗结果和安全性。
我们纳入了三名在佛罗伦萨迈耶儿童医院儿科风湿病科接受随访的患者；根据国际风湿病联盟（ILAR）标准，这些患者患有JIA，根据国际免疫学会联合会（IUIS）人类先天性免疫缺陷表型分类，患有IEI。其中，两名患者患有22q11.2缺失综合征（22q11.2DS），一名患者患有X连锁无丙种球蛋白血症（XLA）。
病例1：一名6岁2个月大的男孩在2岁时患有22q11.2DS，合并少关节型JIA。他接受了非甾体抗炎药（NSAIDs）、甲氨蝶呤以及口服糖皮质激素治疗，但未见疗效。使用依那西普治疗10个月后病情缓解。病例2：一名6岁2个月大的女孩在3岁11个月时患有22q11.2DS，合并少关节型JIA。她接受了NSAIDs、关节注射和甲氨蝶呤治疗，但无临床反应。使用阿达木单抗治疗6个月后病情缓解。病例3：一名12岁2个月大的男孩在9岁11个月时患有XLA，合并多关节型JIA。他接受了NSAIDs、甲氨蝶呤、关节注射和口服糖皮质激素治疗，但未见疗效。他对抗TNF-α、托珠单抗和阿巴西普均无反应。目前，他正在接受西罗莫司联合阿巴西普治疗，4个月后病情缓解。
结果表明，免疫抑制生物疗法可控制这些患者的疾病活动。随访期间未观察到药物相关不良反应。
