杂合性 IKKβ 激活环突变导致复杂免疫缺陷综合征。
Heterozygous IKKβ activation loop mutation results in a complex immunodeficiency syndrome.
机构信息
National Jewish Health, Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, Denver, Colo; Section of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colo; Children's Hospital of Colorado Aurora, Colo.
Section of Allergy and Immunology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colo; Children's Hospital of Colorado Aurora, Colo.
出版信息
J Allergy Clin Immunol. 2021 Feb;147(2):737-740.e6. doi: 10.1016/j.jaci.2020.06.007. Epub 2020 Jun 15.
Abstract
We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome.
摘要
我们在一名患有外胚层发育不良和免疫缺陷的成年人中鉴定出 IKBKB 中的胚系、功能获得性突变 K171R。K171R 小鼠的免疫表型与人相似，提示 IKBKB K171R 是一种新型免疫缺陷综合征的基础。
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