Cargando…

Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

OBJECTIVES: TNFAIP3 encodes A20 that negatively regulates nuclear factor kappa light chain enhancer of activated B cells (NF-κB), the major transcription factor coordinating inflammatory gene expression. TNFAIP3 polymorphisms have been linked with a spectrum of inflammatory and autoimmune diseases a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rajamäki, Kristiina, Keskitalo, Salla, Seppänen, Mikko, Kuismin, Outi, Vähäsalo, Paula, Trotta, Luca, Väänänen, Antti, Glumoff, Virpi, Keskitalo, Paula, Kaarteenaho, Riitta, Jartti, Airi, Hautala, Nina, Jackson, Päivi, Nordström, Dan C, Saarela, Janna, Hautala, Timo, Eklund, Kari K, Varjosalo, Markku
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2018
Materias:	Autoinflammatory Disorders
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203104/ https://www.ncbi.nlm.nih.gov/pubmed/30402268 http://dx.doi.org/10.1136/rmdopen-2018-000740

Ejemplares similares

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity
por: Pernaa, Nora, et al.
Publicado: (2022)

Myeloid-related protein 8/14 in plasma and serum in patients with new-onset juvenile idiopathic arthritis in real-world setting in a single center
por: Keskitalo, Paula L., et al.
Publicado: (2022)

Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation
por: Yan, Kai, et al.
Publicado: (2022)

Tonsillar granuloma associated with hypogammaglobulinemia
por: Laajala, Aleksi, et al.
Publicado: (2020)

Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis
por: Santaniemi, Wenny, et al.
Publicado: (2023)

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis
por: Partanen, Terhi, et al.
Publicado: (2020)

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation
por: Hautala, Timo, et al.
Publicado: (2020)

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease
por: Keskitalo, Salla, et al.
Publicado: (2019)

Physical and functional interactome atlas of human receptor tyrosine kinases
por: Salokas, Kari, et al.
Publicado: (2022)

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP12 Mutation
por: Borghini, S, et al.
Publicado: (2011)

Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene
por: Pelagatti, M A, et al.
Publicado: (2011)

Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease
por: Shigemura, Tomonari, et al.
Publicado: (2016)

Inflammatory lung disease a potential risk factor for onset of idiopathic inflammatory myopathies: results from a pilot study
por: Helmers, Sevim Barbasso, et al.
Publicado: (2016)

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases
por: Savic, Sinisa, et al.
Publicado: (2017)

Polymyalgia rheumatica: an autoinflammatory disorder?
por: Floris, Alberto, et al.
Publicado: (2018)

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever
por: Van Gorp, Hanne, et al.
Publicado: (2020)

Long-term efficacy and safety of canakinumab in patients with colchicine-resistant familial Mediterranean fever: results from the randomised phase III CLUSTER trial
por: Ozen, Seza, et al.
Publicado: (2020)

Mixed results with baricitinib in biological-resistant adult-onset Still’s disease and undifferentiated systemic autoinflammatory disease
por: Kacar, Mark, et al.
Publicado: (2020)

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome
por: Kuemmerle-Deschner, Jasmin Beate, et al.
Publicado: (2020)

Contrasting role of NLRP12 in autoinflammation: evidence from a case report and mouse models
por: Lévy, Dan, et al.
Publicado: (2021)

COVID-19 infection among patients with autoinflammatory diseases: a study on 117 French patients compared with 1545 from the French RMD COVID-19 cohort: COVIMAI – the French cohort study of SARS-CoV-2 infection in patient with systemic autoinflammatory diseases
por: Bourguiba, Rim, et al.
Publicado: (2022)

Association of the Leukocyte Immunoglobulin‐like Receptor A3 Gene With Neutrophil Activation and Disease Susceptibility in Adult‐Onset Still’s Disease
por: Wang, Mengyan, et al.
Publicado: (2021)

Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis
por: Bhuyan, Farzana, et al.
Publicado: (2021)

Long-term safety and effectiveness of canakinumab therapy in patients with cryopyrin-associated periodic syndrome: results from the β-Confident Registry
por: Walker, Ulrich A, et al.
Publicado: (2021)

Patients with VEXAS diagnosed in a Danish tertiary rheumatology setting have highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers
por: Rasch, Mads Nyhuus Bendix, et al.
Publicado: (2022)

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
por: Kozycki, Christina Torres, et al.
Publicado: (2022)

Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients
por: Khitri, Mohamed-Yacine, et al.
Publicado: (2022)

Distinct immune-effector and metabolic profile of CD8(+) T cells in patients with autoimmune polyarthritis induced by therapy with immune checkpoint inhibitors
por: Benesova, Karolina, et al.
Publicado: (2022)

Potential impact of autoimmune diseases family history in IgG4-related disease: a retrospective cohort study
por: Sun, Ruijie, et al.
Publicado: (2023)

Combined therapy of prednisone and mTOR inhibitor sirolimus for treating retroperitoneal fibrosis
por: Gao, Hui, et al.
Publicado: (2023)

SAPHO syndrome can cause sausage finger lesions
por: Jiang, Haixu, et al.
Publicado: (2023)

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
por: Mascaro, Jose Manuel, et al.
Publicado: (2023)

Still’s disease continuum from childhood to elderly: data from the international AIDA Network Still’s disease registry
por: Vitale, Antonio, et al.
Publicado: (2023)

Characteristics and outcome of critically ill patients with systemic rheumatic diseases referred to the intensive care unit
por: Schneeweiss-Gleixner, Mathias, et al.
Publicado: (2023)

Derivation and validation of four patient clusters in Still’s disease, results from GIRRCS AOSD-study group and AIDA Network Still Disease Registry
por: Ruscitti, Piero, et al.
Publicado: (2023)

IRF2BP2 Mutation Is Associated with Increased STAT1 and STAT5 Activation in Two Family Members with Inflammatory Conditions and Lymphopenia
por: Palmroth, Maaria, et al.
Publicado: (2021)

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
por: Keskitalo, Salla, et al.
Publicado: (2019)

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy
por: Hautala, Timo J., et al.
Publicado: (2017)

The Impact of ETV6-NTRK3 Oncogenic Gene Fusions on Molecular and Signaling Pathway Alterations
por: Kinnunen, Matias, et al.
Publicado: (2023)

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland
por: Trotta, Luca, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_r4jd4jqd9e8o1jl1gn4tsdskhe