关键词: Autoinflammatory disorder IL1RA-inhibitor NLRP1 anakinra dyskeratosis inborn error of immunity ruxolitinib

来  源:   DOI:10.1016/j.jacig.2024.100251   PDF(Pubmed)

Abstract:
A patient presented with overlapping clinical and laboratory features of 2 rare autoinflammatory diseases, NLRP1-associated autoinflammation with arthritis and dyskeratosis and familial multiple self-healing palmoplantar carcinoma. Her severe inflammatory attack was treated with the IL-1 receptor-α inhibitor anakinra along with the Janus kinase inhibitor ruxolitinib. Three years into the treatment, the patient\'s inflammatory symptoms are completely in remission.
摘要:
患者表现为2种罕见的自身炎症性疾病的临床和实验室特征重叠,NLRP1相关的自身炎症与关节炎和角化不良和家族性多发性自愈掌plant癌。她的严重炎症发作用IL-1受体-α抑制剂anakinra和Janus激酶抑制剂ruxolitinib治疗。治疗三年后,患者的炎症症状完全缓解。
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