Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

• Published in: Journal of allergy and clinical immunology Vol. 144; no. 5; pp. 1364 - 1376
• Main Authors: 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
• Language: English
• Published: United States Elsevier Inc 01.11.2019; Elsevier Limited
• Subjects: 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

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...