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Updated: Jan 8, 2026

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新型HCK相关突变导致自发炎性疾病与肺部表现在一个儿科患者的症状

Afig Berdeli1,2,3, Shams Ismayilova4, Nida Gürbüz5

  • 1Department of Pediatric Rheumatology, Ege University Faculty of Medicine, İzmir, Türkiye. afigberdeli@yahoo.com.

Pediatric rheumatology online journal
|December 11, 2025
PubMed
概括

一种新的HCK基因突变导致一种罕见的自身炎症性疾病,早期出现肺和皮肤症状. 针对性抗IL1B治疗导致一名年轻患者的完全缓解.

关键词:
自燃性炎症性疾病是一种自燃性炎症性疾病.基因分析 基因分析造血细胞激酶 (HCK) 是一种细胞激酶.阻断IL-1的方法下一代测序 (NGS) 是指下一代的测序.肺部和皮肤血管炎.整体外基因组测序 (WES) 测序

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