Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

Göös, Helka; Fogarty, Christopher L; Sahu, Biswajyoti; Plagnol, Vincent; Rajamäki, Kristiina; Nurmi, Katariina; Liu, Xiaonan; Einarsdottir, Elisabet; Jouppila, Annukka; Pettersson, Tom; Vihinen, Helena; Krjutskov, Kaarel; Saavalainen, Päivi; Järvinen, Asko; Muurinen, Mari; Greco, Dario; Scala, Giovanni; Curtis, James; Nordström, Dan; Flaumenhaft, Robert; Vaarala, Outi; Kovanen, Panu E; Keskitalo, Salla; Ranki, Annamari; Kere, Juha; Lehto, Markku; Notarangelo, Luigi D; Nezhentsev, Sergey; Eklund, Kari K; Varjosalo, Markku; Taipale, Jussi; Seppänen, Mikko RJ

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Authors

Göös, Helka

Fogarty, Christopher L

Sahu, Biswajyoti

Plagnol, Vincent

Rajamäki, Kristiina

Nurmi, Katariina

Liu, Xiaonan

Publication Date

2019-11

Journal Title

The Journal of allergy and clinical immunology

ISSN

0091-6749

Volume

144

Issue

Pages

1364-1376

Language

eng

Type

Article

This Version

VoR

Physical Medium

Print-Electronic

Metadata

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Citation

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/

Except where otherwise noted, this item's licence is described as Attribution-NonCommercial-NoDerivatives 4.0 International