Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

CCAAT enhancer–binding protein epsilon (C/EBPε) is a transcription factor involved in late myeloid lineage differentiation and cellular function. The only previously known disorder linked to C/EBPε is autosomal recessive neutrophil-specific granule deficiency leading to severely impaired neutrophil...

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Veröffentlicht in:	Journal of allergy and clinical immunology Jg. 144; H. 5; S. 1364 - 1376
Hauptverfasser:	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., Nejentsev, Sergey, Eklund, Kari K., Varjosalo, Markku, Taipale, Jussi, Seppänen, Mikko R.J.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Elsevier Inc 01.11.2019 Elsevier Limited
Schlagworte:	Abdomen Age Aged autoinflammatory diseases Bacterial infections Caspase-5 Caspases - genetics Caspases - metabolism CCAAT-Enhancer-Binding Proteins - genetics Cells, Cultured chemotaxis Chromatin Deoxyribonucleic acid DNA Female Fever Flow cytometry Gain of Function Mutation - genetics gain-of-function mutation Gene Expression Profiling Genetic analysis Genomes Granulocytes hereditary Hospitals Human subjects Humans Immune system Immunodeficiency Immunologic deficiency syndromes Immunologic Deficiency Syndromes - genetics Immunoprecipitation Infections Inflammasomes Inflammasomes - genetics Inflammasomes - metabolism Inflammation Inflammation - genetics interferons Lymphatic system Macrophages Macrophages - metabolism Macrophages - pathology Male Microscopy Mutation neomorphic mutation Neutrophils Neutrophils - physiology NLR family NLR Family, Pyrin Domain-Containing 3 Protein - genetics NLR Family, Pyrin Domain-Containing 3 Protein - metabolism Pain Pedigree Proteins Proteomics pyrin domain-containing 3 protein Pyrin protein Repressors Ribonucleic acid RNA Sequence Analysis, RNA Transcription factors Ulcers Up-Regulation Finland NLR family C/EBP autoinflammatory diseases PPI Immunologic deficiency syndromes ChIP NF-κB interferons pyrin domain-containing 3 protein RNA-seq FDR NLRP3 AID CAIN WT chemotaxis GOF LOF gain-of-function mutation inflammasomes PID SGD SMRC2 STAT JAK ChIP-seq neomorphic mutation hereditary FC
ISSN:	0091-6749, 1097-6825, 1097-6825
Online-Zugang:	Volltext
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