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tumor necrosis factor receptor-associated periodic syndrome

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https://www.readbyqxmd.com/read/29768139/canakinumab-for-the-treatment-of-autoinflammatory-recurrent-fever-syndromes
#1
RANDOMIZED CONTROLLED TRIAL
Fabrizio De Benedetti, Marco Gattorno, Jordi Anton, Eldad Ben-Chetrit, Joost Frenkel, Hal M Hoffman, Isabelle Koné-Paut, Helen J Lachmann, Seza Ozen, Anna Simon, Andrew Zeft, Inmaculada Calvo Penades, Michel Moutschen, Pierre Quartier, Ozgur Kasapcopur, Anna Shcherbina, Michael Hofer, Philip J Hashkes, Jeroen Van der Hilst, Ryoki Hara, Segundo Bujan-Rivas, Tamas Constantin, Ahmet Gul, Avi Livneh, Paul Brogan, Marco Cattalini, Laura Obici, Karine Lheritier, Antonio Speziale, Guido Junge
BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks...
May 17, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29467762/inositol-requiring-enzyme-1-mediated-downregulation-of-microrna-mir-146a-and-mir-155-in-primary-dermal-fibroblasts-across-three-tnfrsf1a-mutations-results-in-hyperresponsiveness-to-lipopolysaccharide
#2
Stephanie R Harrison, Thomas Scambler, Lylia Oubussad, Chi Wong, Miriam Wittmann, Michael F McDermott, Sinisa Savic
Tumor necrosis factor (TNF)-receptor-associated periodic fever syndrome (TRAPS) is a rare monogenic autoinflammatory disorder characterized by mutations in the TNFRSF1A gene, causing TNF-receptor 1 (TNFR1) misfolding, increased cellular stress, activation of the unfolded protein response (UPR), and hyperresponsiveness to lipopolysaccharide (LPS). Both microRNA (miR)-146a and miR-155 provide negative feedback for LPS-toll-like receptor 2/4 signaling and cytokine production, through regulation of nuclear factor kappa B (NF-κB)...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29450850/recurrent-fever-and-arthralgia-as-the-presentation-of-tumor-necrosis-factor-receptor-associated-periodic-syndrome-traps-in-a-chinese-girl-a-case-report-and-review-of-the-literature
#3
REVIEW
Yanxia Chen, Xingqi Huang, Sujie Zheng, Zhongliang Zhu, Wei Yang, Jinlin Liu
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by recurrent episodes of inflammation with fever, abdominal pain, chest pain, rash, myalgia, arthralgia, conjunctivitis, and periorbital edema. This condition is a rare autosomal dominant disease that is strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. This condition is believed to be more common in Western countries than in Asian countries, and the AA amyloidosis rate for European countries is estimated to be 10%...
May 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29175410/invitro-ex-vivo-and-in-vivo-evaluation-of-a-dual-ph-redox-responsive-nanoliposomal-sludge-for-transdermal-drug-delivery
#4
Simphiwe Mavuso, Thashree Marimuthu, Pradeep Kumar, Pierre P D Kondiah, Lisa C du Toit, Yahya E Choonara, Viness Pillay
A dual pH/redox responsive copper-glyglycine-prednisolone succinate-loaded nanoliposomal (NL) sludge was successfully synthesized and optimized using a Box-Behnken design of experiments. Preformulation design variables indicated that relative ratios of phospholipids, considerably influences NL size, thus altering the degree of drug loading in the formulation. In vitro evaluation further confirmed optimum release kinetics of the NL sludge, corresponding closely to ex vivo permeation studies, demonstrating effective transdermal delivery of prednisone succinate (PS) through a pig skin model, which closely resembles human skin anatomy...
April 2018: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29032440/vasculitis-and-vasculitis-like-manifestations-in-monogenic-autoinflammatory-syndromes
#5
REVIEW
Avinash Jain, Durga Prasanna Misra, Aman Sharma, Anupam Wakhlu, Vikas Agarwal, Vir Singh Negi
Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/28942479/tumor-necrosis-factor-associated-periodic-syndrome-in-adults
#6
REVIEW
Sharika Gopakumar Menon, Petros Efthimiou
Tumor necrosis factor-associated periodic syndrome is an autoinflammatory disorder classified under hereditary periodic fever syndromes. Mutations in the tumor necrosis factor receptor contribute to tumor necrosis factor-associated periodic syndrome. Decreased shedding of receptors and increased mitochondrial reactive oxygen species production leading to elevated proinflammatory cytokines are documented. Inflammation in various organs is hallmark of tumor necrosis factor-associated periodic syndrome and manifests as spiking fever, abdominal pain, conjunctivitis and polyserositis in adults...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/28937477/systematic-vasculopathy-in-a-patient-with-tumor-necrosis-factor-receptor-associated-periodic-syndrome
#7
Daniele Cammelli, Gianfranco Vitiello, Arianna Troilo, Camilla Eva Comin, Luca Cantarini
No abstract text is available yet for this article.
October 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28631068/autoinflammatory-diseases-with-periodic-fevers
#8
REVIEW
Erdal Sag, Yelda Bilginer, Seza Ozen
PURPOSE OF REVIEW: One purpose of this review was to raise awareness for the new autoinflammatory syndromes. These diseases are increasingly recognized and are in the differential diagnosis of many disease states. We also aimed to review the latest recommendations for the diagnosis, management, and treatment of these patients. RECENT FINDINGS: Familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), and hyperimmunoglobulinemia D and periodic fever syndrome/mevalonate kinase deficiency (HIDS/MVKD) are the more common autoinflammatory diseases that are characterized by periodic fevers and attacks of inflammation...
July 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28536823/efficacy-and-safety-of-anakinra-in-tumor-necrosis-factor-receptor-associated-periodic-syndrome-traps-complicated-by-severe-renal-failure-a-report-after-long-term-follow-up-and-review-of-the-literature
#9
REVIEW
Stefano Gentileschi, Donato Rigante, Antonio Vitale, Jurgen Sota, Bruno Frediani, Mauro Galeazzi, Luca Cantarini
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), caused by mutations in the TNFRSF1A gene, is the most frequent autosomal dominant autonflammatory disease displaying a relevant risk of reactive AA amyloidosis, if left untreated. Our report deals with one adult with TRAPS complicated by amyloidosis-related renal failure, treated with the recombinant human interleukin-1 receptor antagonist anakinra at a higher than conventional dosage. This treatment did not present any adverse event and led remarkably to the disappearance of all TRAPS-related manifestations and prompt decrease of laboratory abnormalities, including proteinuria...
July 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28500690/tumour-necrosis-factor-receptor-associated-periodic-syndrome-mimicking-chronic-spontaneous-urticaria
#10
LETTER
S Aurich, J C Simon, R Treudler
No abstract text is available yet for this article.
May 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28497352/monogenic-periodic-fever-syndromes-treatment-options-for-the-pediatric-patient
#11
REVIEW
Seza Ozen, Selcan Demir
Autoinflammatory diseases are disorders of the innate immune system characterized by uncontrolled inflammation. The most commonly encountered autoinflammatory diseases are the hereditary periodic fever syndromes, which present with fever and other features of the skin, serosal membranes, and musculoskeletal system. The main inherited (monogenic) periodic fever syndromes are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD)...
August 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28427379/novel-mutation-identified-in-severe-early-onset-tumor-necrosis-factor-receptor-associated-periodic-syndrome-a-case-report
#12
Suhas M Radhakrishna, Amy Grimm, Lori Broderick
BACKGROUND: Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1-3 weeks. Systemic symptoms can include rash, myalgia, ocular inflammation, and serositis. CASE PRESENTATION: Here we report an unusual presentation of TRAPS in a 7 month old girl who presented with only persistent fever. She was initially diagnosed with incomplete Kawasaki Disease and received IVIG and infliximab; however, her fevers quickly recurred...
April 20, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28426531/high-fat-feeding-protects-mice-from-ventilator-induced-lung-injury-via-neutrophil-independent-mechanisms
#13
Michael R Wilson, Joanne E Petrie, Michael W Shaw, Cong Hu, Charlotte M Oakley, Samantha J Woods, Brijesh V Patel, Kieran P O'Dea, Masao Takata
OBJECTIVE: Obesity has a complex impact on acute respiratory distress syndrome patients, being associated with increased likelihood of developing the syndrome but reduced likelihood of dying. We propose that such observations are potentially explained by a model in which obesity influences the iatrogenic injury that occurs subsequent to intensive care admission. This study therefore investigated whether fat feeding protected mice from ventilator-induced lung injury. DESIGN: In vivo study...
August 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28396659/disease-phenotype-and-outcome-depending-on-the-age-at-disease-onset-in-patients-carrying-the-r92q-low-penetrance-variant-in-tnfrsf1a-gene
#14
Estíbaliz Ruiz-Ortiz, Estíbaliz Iglesias, Alessandra Soriano, Segundo Buján-Rivas, Marta Español-Rego, Raul Castellanos-Moreira, Adrià Tomé, Jordi Yagüe, Jordi Antón, José Hernández-Rodríguez
BACKGROUND: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related disease in patients with pediatric and adult onset have been performed to date. OBJECTIVE: To analyze clinical features and disease outcomes in patients diagnosed with TRAPS associated with R92Q variant and to investigate differences between patients with pediatric and adult disease onset...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28375838/circulating-intercellular-adhesion-molecule-1-sicam-1-in-tumour-necrosis-factor-receptor-associated-periodic-syndrome-traps
#15
LETTER
Luca Cantarini, Valentina Pucino, Antonio Vitale, Orso Maria Lucherini, Laura Obici, Giuseppe Matarese
No abstract text is available yet for this article.
May 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28054230/tumor-necrosis-factor-alpha-and-pregnancy-focus-on-biologics-an-updated-and-comprehensive-review
#16
REVIEW
Jaume Alijotas-Reig, Enrique Esteve-Valverde, Raquel Ferrer-Oliveras, Elisa Llurba, Josep Maria Gris
Tumor necrosis factor-α (TNF-α) is a central regulator of inflammation, and TNF-α antagonists may be effective in treating inflammatory disorders in which TNF-α plays a major pathogenic role. TNF-α has also been associated with inflammatory mechanisms related to implantation, placentation, and pregnancy outcome. TNF-α is secreted by immune cells and works by binding to TNFR1 and TNFR2 cell receptors. TNF-α is also related to JAK/STAT pathways, which opens up hypothetical new targets for modifying. The accurate balance between Th1 cytokines, mainly TNF-α, Th17, and Th2, particularly IL-10 is essential to achieve good obstetric outcomes...
August 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27990755/efficacy-of-anakinra-in-an-adult-patient-with-recurrent-pericarditis-and-cardiac-tamponade-as-initial-manifestations-of-tumor-necrosis-factor-receptor-associated-periodic-syndrome-due-to-the-r92q-tnfrsf1a-variant
#17
Daniel Camprubí, Francesca Mitjavila, Juan I Arostegui, Xavier Corbella
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory disease caused by TNFRSF1A mutations. Patients with TRAPS suffer from recurrent, long episodes with fever, arthralgia/arthritis, migratory myalgias, abdominal pain, serositis, conjunctivitis and migratory erythematous skin rash. More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression. Among TNFRSF1A variants, the low-penetrance p...
April 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27983684/lung-involvement-in-children-with-hereditary-autoinflammatory-disorders
#18
REVIEW
Giusyda Tarantino, Susanna Esposito, Laura Andreozzi, Benedetta Bracci, Francesca D'Errico, Donato Rigante
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is pleuritis in familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively caused by mutations in the MEFV and TNFRSF1A genes, while interstitial lung disease can be observed in STING-associated vasculopathy with onset in infancy (SAVI), caused by mutations in the TMEM173 gene...
December 15, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27793577/a-novel-tnfrsf1a-gene-mutation-in-a-patient-with-tumor-necrosis-factor-receptor-associated-periodic-syndrome
#19
Alireza Khabazi, Mahafarin Maralani, Sasan Andalib, Ebrahim Sakhinia
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor α. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here, we report an 8-year-old boy with febrile attacks occurring every 1-2months and continuing for 3-4days...
October 19, 2016: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/27441656/proton-pump-inhibitors-protect-mice-from-acute-systemic-inflammation-and-induce-long-term-cross-tolerance
#20
E Balza, P Piccioli, S Carta, R Lavieri, M Gattorno, C Semino, P Castellani, A Rubartelli
Incidence of sepsis is increasing, representing a tremendous burden for health-care systems. Death in acute sepsis is attributed to hyperinflammatory responses, but the underlying mechanisms are still unclear. We report here that proton pump inhibitors (PPIs), which block gastric acid secretion, selectively inhibited tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) secretion by Toll-like receptor (TLR)-activated human monocytes in vitro, in the absence of toxic effects. Remarkably, the oversecretion of IL-1β that represents a hallmark of monocytes from patients affected by cryopyrin-associated periodic syndrome is also blocked...
July 21, 2016: Cell Death & Disease
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