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; et al. (Journal of allergy and clinical immunology, 2019)
Keywords: 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