信号转导和转录激活因子6功能获得性疾病：p.D519N是一种对度普利尤单抗治疗反应良好的新型致病变体。
STAT6 gain-of-function disease: p.D519N is a new disease-causing variant that responds well to dupilumab treatment.
作者信息
Samra Simran, Cook Eleanor, Wilson Jessica, Sharma Mehul, Golding Liam, Yao David T, Marsh Rebecca A, Turvey Stuart E
机构信息
Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, British Columbia, Canada.
Experimental Medicine Program, Department of Medicine, The University of British Columbia, Vancouver, British Columbia, Canada.
出版信息
J Allergy Clin Immunol Glob. 2025 May 9;4(3):100494. doi: 10.1016/j.jacig.2025.100494. eCollection 2025 Aug.
This case report presents a new genetic variant that causes STAT6 gain-of-function disease in 2 patients, expands the clinical phenotype of STAT6 gain-of-function disease, and describes its authors' success in using therapeutics to manage this rare disease.
本病例报告介绍了一种新的基因变异，该变异在两名患者中导致STAT6功能获得性疾病，扩展了STAT6功能获得性疾病的临床表型，并描述了作者在使用治疗方法治疗这种罕见疾病方面取得的成功。
Zotero 插件