与严重间质性肺疾病相关的一种新型低表达突变。
A novel hypomorphic mutation in associated with severe interstitial lung disease.
作者信息
Liu Hui, Yang Haiming, Xu Hui, Jiang Maolin, Wen Xiaohui, Zhang Xiang, Zhao Shunying
机构信息
Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China.
出版信息
J Allergy Clin Immunol Glob. 2025 Jul 30;4(4):100546. doi: 10.1016/j.jacig.2025.100546. eCollection 2025 Nov.
Abstract
In individuals with hypomorphic mutations of , inflammatory or autoimmune disorders are rare. We present a child with prolonged and severe interstitial lung disease, Omenn-like syndrome, and a novel frameshift variant in .
摘要
在具有 基因低表达突变的个体中，炎症性或自身免疫性疾病很少见。我们报告了一名患有长期严重间质性肺病、奥门样综合征且 基因存在一种新型移码变异的儿童。
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