Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
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Authors
Fogarty, Christopher L
Plagnol, Vincent
Jouppila, Annukka
Pettersson, Tom
Krjutskov, Kaarel
Saavalainen, Päivi
Järvinen, Asko
Muurinen, Mari
Curtis, James
Nordström, Dan
Flaumenhaft, Robert
Vaarala, Outi
Kovanen, Panu E
Ranki, Annamari
Lehto, Markku
Notarangelo, Luigi D
Eklund, Kari K
Taipale, Jussi
Publication Date
2019-11Journal Title
The Journal of allergy and clinical immunology
ISSN
0091-6749
Volume
144
Issue
5
Pages
1364-1376
Language
eng
Type
Article
This Version
VoR
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Göös, H., Fogarty, C. L., Sahu, B., Plagnol, V., Rajamäki, K., Nurmi, K., Liu, X., et al. (2019). Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.. The Journal of allergy and clinical immunology, 144 (5), 1364-1376. https://doi.org/10.1016/j.jaci.2019.06.003
Keywords
Neutrophils, Cells, Cultured, Macrophages, Humans, Immunologic Deficiency Syndromes, Inflammation, Caspases, CCAAT-Enhancer-Binding Proteins, Gene Expression Profiling, Pedigree, Sequence Analysis, RNA, Up-Regulation, Aged, Female, Male, Inflammasomes, NLR Family, Pyrin Domain-Containing 3 Protein, Gain of Function Mutation
Identifiers
External DOI: https://doi.org/10.1016/j.jaci.2019.06.003
This record's URL: https://www.repository.cam.ac.uk/handle/1810/299298
Rights
Attribution-NonCommercial-NoDerivatives 4.0 International
Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/