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本文引用的文献

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Gain-of-function mutation causes human combined immune deficiency.功能获得性突变导致人类联合免疫缺陷。
J Exp Med. 2018 Nov 5;215(11):2715-2724. doi: 10.1084/jem.20180639. Epub 2018 Oct 18.
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Novel Lys63-linked ubiquitination of IKKβ induces STAT3 signaling.新型IKKβ赖氨酸63连接的泛素化诱导STAT3信号传导。
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IκB kinase β (IKBKB) mutations in lymphomas that constitutively activate canonical nuclear factor κB (NFκB) signaling.淋巴瘤中的IκB激酶β（IKBKB）突变可组成性激活经典核因子κB（NFκB）信号通路。
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Alteration of BIRC3 and multiple other NF-κB pathway genes in splenic marginal zone lymphoma.脾脏边缘区淋巴瘤中 BIRC3 和多个其他 NF-κB 通路基因的改变。
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Initial genome sequencing and analysis of multiple myeloma.多发性骨髓瘤的初始基因组测序和分析。
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Differential role of the transcription factor NF-kappaB in selection and survival of CD4+ and CD8+ thymocytes.转录因子NF-κB在CD4+和CD8+胸腺细胞的选择与存活中的差异作用。
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Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.低表达核因子-κB必需调节子突变数据库及重组系统鉴定表型和免疫多样性。
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Canonical NF-kappaB activity, dispensable for B cell development, replaces BAFF-receptor signals and promotes B cell proliferation upon activation.典型的核因子-κB活性对B细胞发育并非必需，它可替代B细胞活化因子受体信号，并在活化后促进B细胞增殖。
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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.

DOI:10.1016/j.jaci.2020.06.007
PMID:32554083
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8176654/
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。