An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
An autoinflammatory disease due to homozygous deletion of the IL1RN locus.
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DOI：
10.1056/nejmoa0809568
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发表时间：
2009-06-04
期刊：
影响因子：
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通讯作者：
Verbsky J
中科院分区：
文献类型：
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作者：
Reddy S;Jia S;Geoffrey R;Lorier R;Suchi M;Broeckel U;Hessner MJ;Verbsky J
我们描述了一名患有自身炎症性疾病的患者，其主要临床特征是脓疱性皮疹、明显的骨质减少、溶骨性病变、呼吸功能不全和血栓形成。遗传学研究揭示了染色体 2q13 上的 175 kb 纯合缺失，其中包含多个 IL-1 家族成员，包括编码 IL-1 受体拮抗剂 (IL1RN) 的基因。从患者身上获得并培养的单核细胞产生大量炎症细胞因子，在脂多糖刺激后分泌量不断增加。在新生儿发病的多系统炎症性疾病 (NOMID) 患者的外周血单核细胞中没有观察到类似的增加。阿那白滞素治疗完全解决了症状和病变。
We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1–receptor antagonist (IL1RN). Mononuclear cells, obtained from the patient and cultured, produced large amounts of inflammatory cytokines, with increasing amounts secreted after stimulation with lipopolysaccharide. A similar increase was not observed in peripheral-blood mononuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions.