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Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

作者信息

Burns Siobhan O, Plagnol Vincent, Gutierrez Beatriz Morillo, Al Zahrani Daifulah, Curtis James, Gaspar Miguel, Hassan Amel, Jones Alison M, Malone Marian, Rampling Dyanne, McLatchie Alex, Doffinger Rainer, Gilmour Kimberly C, Henriquez Frances, Thrasher Adrian J, Gaspar H Bobby, Nejentsev Sergey

机构信息

Institute of Immunity and Transplantation, University College London, and the Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

UCL Genetics Institute, UCL, London, United Kingdom.

出版信息

J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27.

DOI:10.1016/j.jaci.2013.12.1093
PMID:24679846
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4085475/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/c79f2d6964f2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/b45a68cc3c01/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/527411344a94/fx2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/c79f2d6964f2/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/b45a68cc3c01/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/527411344a94/fx2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9315/4085475/c79f2d6964f2/gr1.jpg

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PLoS One. 2013;8(1):e54124. doi: 10.1371/journal.pone.0054124. Epub 2013 Jan 22.
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Role of NF-κB in epithelial biology.NF-κB 在上皮生物学中的作用。
Immunol Rev. 2012 Mar;246(1):346-58. doi: 10.1111/j.1600-065X.2012.01109.x.
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Crosstalk in NF-κB signaling pathways.NF-κB 信号通路中的串扰。
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Skin manifestations of inborn errors of NF-κB.核因子κB先天性缺陷的皮肤表现
Front Pediatr. 2023 Jan 17;10:1098426. doi: 10.3389/fped.2022.1098426. eCollection 2022.
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Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa.南非疑似孟德尔易感性分枝杆菌病患者的表型和免疫功能分析。
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