Cargando…

Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease

OBJECTIVE: Although Behçet's disease (BD) is a chronic inflammatory disorder of uncertain aetiology, the existence of familial BD with autosomal-dominant traits suggests that a responsibility gene (or genes) exists. We investigated a Japanese family with a history of BD to search for pathogenic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shigemura, Tomonari, Kaneko, Naoe, Kobayashi, Norimoto, Kobayashi, Keiko, Takeuchi, Yusuke, Nakano, Naoko, Masumoto, Junya, Agematsu, Kazunaga
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2016
Materias:	Autoinflammatory Disorders
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860863/ https://www.ncbi.nlm.nih.gov/pubmed/27175295 http://dx.doi.org/10.1136/rmdopen-2015-000223

Ejemplares similares

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)

Haploinsufficiency of A20 impairs protein–protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation
por: Rajamäki, Kristiina, 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)

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)

Juvenile onset autoinflammatory disease due to a novel mutation in TNFAIP3 (A20)
por: Sato, Shuzo, et al.
Publicado: (2018)

KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle–Wells syndrome
por: Kaneko, Naoe, et al.
Publicado: (2020)

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)

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)

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

Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis
por: Iwasaki, Tomoyuki, et al.
Publicado: (2016)

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia
por: Cho, Kazutoshi, et al.
Publicado: (2018)

Monitoring serum IL-18 levels is useful for treatment of a patient with systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
por: Shigemura, Tomonari, et al.
Publicado: (2011)

IL-18 serum concentration is continuously elevated in typical familial Mediterranean fever with M694I mutation and can distinguish atypical type
por: Yamazaki, T, et al.
Publicado: (2015)

Autosomal dominant Hashimoto’s thyroiditis with a mutation in TNFAIP3
por: Hori, Tomohiro, et al.
Publicado: (2019)

A dominantly-inherited Behcet-like disorder caused by haploinsufficiency of the TNFAIP3/A20 protein
por: Zhou, Q, et al.
Publicado: (2015)

Intestinal edema induced by LPS-induced endotoxemia is associated with an inflammasome adaptor ASC
por: Yamamoto, Toshihiro, et al.
Publicado: (2023)

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease
por: Tsuchida, Naomi, et al.
Publicado: (2019)

Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation
por: Mulhern, Ciara M., et al.
Publicado: (2019)

Serum Amyloid A Induces NLRP-3-Mediated IL-1β Secretion in Neutrophils
por: Migita, Kiyoshi, et al.
Publicado: (2014)

The role of interleukin-1 in general pathology
por: Kaneko, Naoe, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_jffbo9caj1bul5tsmm7ar5pgd6