Article
Expanding the Genetic and Clinical Spectrum of Hereditary Angioedema with Normal C1 Inhibitor: Novel Variants and Treatment Insights.
Journal of clinical immunology - 23 Aug 2025
Gao Haiqing, Zhao Ying, Chen Shengan, Zhang Zhen, Yang Fanping, Chen Zihua, Wang Lanting, Yang Jin, He Shan, Tang Chang, Zheng Shenyuan, Guan Chenggong, Xu Yu, Tang Lin, Zhang Aiyuan, Maurer Marcus, Lee Dylan, Ma Li, Luo Xiaoqun
Abstract excerpt
Hereditary angioedema with normal C1 inhibitor (HAE-nC1-INH) is a rare and genetically heterogeneous disorder with an incomplete molecular understanding. This study aimed to identify novel genetic variants associated with HAE-nC1-INH, characterize their clinical manifestations, and evaluate real-world treatment responses. Whole-exome sequencing of 27 HAE patients, including eight with HAE-nC1-INH, identified four...
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