keyword
MENU ▼
Read by QxMD icon Read
search

Tnf receptor associated periodic syndrome

keyword
https://www.readbyqxmd.com/read/27856657/the-challenge-of-autoinflammatory-syndromes-with-an-emphasis-on-hyper-igd-syndrome
#1
REVIEW
Jos W M van der Meer, Anna Simon
Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes partly overlap (with fever and acute phase response), but also differ between the various syndromes (e.g. regarding fever pattern, episodic vs chronic inflammation and accompanying clinical signs)...
December 2016: Rheumatology
https://www.readbyqxmd.com/read/27760004/first-case-of-tnf-receptor-associated-autoinflammatory-syndrome-traps-in-bulgaria
#2
Panayot T Solakov
TRAPS is a very rare disease with an estimated prevalence of about one per million. We present a 53-year-old patient from Bulgaria. The clinical features of the disease are periodic fever, arthralgia, myalgia, rash, abdominal pain and hepatosplenomegaly. Laboratory studies yield leukocytosis, highly elevated levels of CRP, significantly high ESR. Secondary amyloidosis AA is determined. The genetic analysis found a heterozygous T>C nucleotide substance (c.250T>C) in exon 3 of TNFRSF1A gene which is associated with ТRAPS (MIM*191190)...
September 1, 2016: Folia Medica
https://www.readbyqxmd.com/read/27755121/vasculitis-in-the-autoinflammatory-diseases
#3
Hagit Peleg, Eldad Ben-Chetrit
PURPOSE OF REVIEW: This article addresses the prevalence and relationship between autoinflammatory diseases and vasculitis. RECENT FINDINGS: Autoimmune diseases (AIDs) are a group of syndromes characterized by episodes of unprovoked inflammation due to dysregulation of the innate immune system. Despite the common occurrence of rashes and other skin lesions in these diseases, vasculitis is reported in only a few. On the other hand, neutrophilic dermatoses are more prevalent...
January 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/27474763/canakinumab-reverses-overexpression-of-inflammatory-response-genes-in-tumour-necrosis-factor-receptor-associated-periodic-syndrome
#4
Rebecca Torene, Nanguneri Nirmala, Laura Obici, Marco Cattalini, Vincent Tormey, Roberta Caorsi, Sandrine Starck-Schwertz, Martin Letzkus, Nicole Hartmann, Ken Abrams, Helen Lachmann, Marco Gattorno
OBJECTIVE: To explore whether gene expression profiling can identify a molecular mechanism for the clinical benefit of canakinumab treatment in patents with tumour necrosis factor receptor-associated periodic syndrome (TRAPS). METHODS: Blood samples were collected from 20 patients with active TRAPS who received canakinumab 150 mg every 4 weeks for 4 months in an open-label proof-of-concept phase II study, and from 20 aged-matched healthy volunteers. Gene expression levels were evaluated in whole blood samples by microarray analysis for arrays passing quality control checks...
July 29, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27441656/proton-pump-inhibitors-protect-mice-from-acute-systemic-inflammation-and-induce-long-term-cross-tolerance
#5
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...
2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27310036/gene-expression-profile-in-tnf-receptor-associated-periodic-syndrome-reveals-constitutively-enhanced-pathways-and-new-players-in-the-underlying-inflammation
#6
Silvia Borghini, Denise Ferrera, Ignazia Prigione, Michele Fiore, Chiara Ferraris, Valentina Mirisola, Adriana Agnese Amaro, Ilaria Gueli, Luca Zammataro, Marco Gattorno, Ulrich Pfeffer, Isabella Ceccherini
OBJECTIVES: Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a multisystemic autoinflammatory condition associated with heterozygous TNFRSF1A mutations, presenting with a variety of clinical symptoms, many of which yet unexplained. In this work, we aimed at deepening into TRAPS pathogenic mechanisms sustained by monocytes. METHODS: Microarray experiments were conducted to identify genes whose expression results altered in patients compared to healthy individuals, both under basal condition and following LPS stimulation...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27295706/-autoinflammatory-diseases
#7
Ricardo A G Russo, María M Katsicas
The monogenic autoinflammatory diseases are rare, genetic disorders resulting in constitutive innate immune defects leading to excessive response to danger signals, spontaneous activation of inflammatory mediators or loss of inhibitory regulators. During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system...
2016: Medicina
https://www.readbyqxmd.com/read/27269295/canakinumab-treatment-for-patients-with-active-recurrent-or-chronic-tnf-receptor-associated-periodic-syndrome-traps-an-open-label-phase-ii-study
#8
Marco Gattorno, Laura Obici, Marco Cattalini, Vincent Tormey, Ken Abrams, Nicole Davis, Antonio Speziale, Suraj G Bhansali, Alberto Martini, Helen J Lachmann
OBJECTIVE: To evaluate the efficacy of canakinumab, a high-affinity human monoclonal anti-interleukin-1β antibody, in inducing complete or almost complete responses in patients with active tumour necrosis factor receptor-associated periodic syndrome (TRAPS). METHODS: Twenty patients (aged 7-78 years) with active recurrent or chronic TRAPS were treated with canakinumab 150 mg every 4 weeks for 4 months (2 mg/kg for those ≤40 kg) in this open-label, proof-of-concept, phase II study...
June 7, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27187378/the-relationship-between-nalp3-and-autoinflammatory-syndromes
#9
REVIEW
Lorna Campbell, Irfan Raheem, Charles J Malemud, Ali D Askari
The nucleotide-binding domain, leucine-rich repeat/pyrin domain-containing-3 (NALP3) inflammasome, which is required for synthesis of interleukin-1β, has been implicated in the pathogenesis of several autoinflammatory syndromes. This review of the literature summarizes the interconnectedness of NALP3 inflammasome with some of these disorders. Familial Mediterranean fever results from a mutation in the Mediterranean fever (MEFV) gene, which encodes the pyrin protein. Previous study results suggest that pyrin suppresses caspase-1 activation, perhaps by competing for the adaptor protein, termed, pyrin domain of apoptosis/speck-like protein containing a caspase-recruitment domain (ACS) which therefore interferes with NALP3 inflammasome activation...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/26992170/brief-report-association-of-tumor-necrosis-factor-receptor-associated-periodic-syndrome-with-gonosomal-mosaicism-of-a-novel-24-nucleotide-tnfrsf1a-deletion
#10
Dorota M Rowczenio, Hadija Trojer, Ebun Omoyinmi, Juan I Aróstegui, Grigor Arakelov, Anna Mensa-Vilaro, Anna Baginska, Caroline Silva Pilorz, Guosu Wang, Thirusha Lane, Paul Brogan, Philip N Hawkins, Helen J Lachmann
OBJECTIVE: To investigate the molecular cause of persistent fevers in a patient returning from working overseas, in whom investigations for tropical diseases yielded negative results. METHODS: DNA was extracted from the patient's whole blood, leukocyte subpopulations, saliva, hair root, and sperm. The TNFRSF1A gene was analyzed by polymerase chain reaction (PCR), allele-specific PCR, Sanger sequencing, and next-generation sequencing. In silico molecular modeling was performed to predict the structural and functional consequences of the tumor necrosis factor receptor (TNFR) type I protein mutation in the extracellular domain...
August 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/26911944/-role-of-%C3%AE-7-nicotinic-acetylcholine-receptor-in-attenuation-of-endotoxin-induced-delirium-with-dexmedetomidine-in-mice
#11
Xueyan Zhang, Zhifeng Li, Xiaochen Sun, Feng Jin, Junting Liu, Jianguo Li
OBJECTIVE: To observe the role of α7 nicotinic acetylcholine receptor (α7nAChR) in the protection against delirium by the use of dexmedetomidine (DEX) in endotoxin derived delirium and its mechanism. METHODS: 100 male adult C57BL/6 mice were randomly divided into normal saline control group (NS group), DEX control group, lipopolysaccharide (LPS) induced endotoxemia model group (LPS group), DEX protection group (DEX+LPS group), and α-bungarotoxin antagonism group (α-BGT+DEX+LPS group), with 20 mice in each group...
February 2016: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/26897858/-pathogenesis-and-clinical-examination-of-autoinflammatory-syndrome
#12
REVIEW
Hiroaki Ida
Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways...
October 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
https://www.readbyqxmd.com/read/26839472/clinical-and-genetic-features-of-korean-patients-with-recurrent-fever-and-multi-system-inflammation-without-infectious-or-autoimmune-evidence
#13
Ji Ae Yang, Ji Yong Choi, Eun Ha Kang, You-Jung Ha, Yun Jong Lee, Yeong Wook Song
Autoinflammatory disease (AID) is a newly proposed category of disorders characterized by unprovoked episodes of inflammation without any infectious or autoimmune evidence. We aimed to characterize the clinical and genetic features of patients who had recurrent fever and multi-system inflammation but remain unclassified for any established AIDs. Medical records of 1,777 patients who visited our Rheumatology Clinic between March 2009 and December 2010 were reviewed to identify those who met the following criteria; 1) presence of fever, 2) inflammation in two or more organ systems, 3) recurrent nature of fever or inflammation, 4) no evidence of infection or malignancy, 5) absence of high titer autoantibodies, and 6) failure to satisfy any classification criteria for known AIDs...
February 2016: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/26524899/-diagnosis-and-clinical-examination-of-autoinflammatory-syndrome
#14
REVIEW
Hiroaki Ida
Autoinflammatory syndrome is characterized by: 1) episodes of seemingly unprovoked inflammation, 2) the absence of a high titer of autoantibodies or auto-reactive T cells, and 3) an inborn error of innate immunity. In this decade, many autoinflammatory syndromes have been reported in Japan, and so many Japanese physicians have become aware of this syndrome. Monogenic autoinflammatory syndromes present with excessive systemic inflammation including fever, rashes, arthritis, and organ-specific inflammation and are caused by defects in single genes encoding proteins that regulate innate inflammatory pathways...
May 2015: Rinsho Byori. the Japanese Journal of Clinical Pathology
https://www.readbyqxmd.com/read/26278305/a-case-presenting-with-the-clinical-characteristics-of-tumor-necrosis-factor-tnf-receptor-associated-periodic-syndrome-traps-without-tnfrsf1a-mutations-successfully-treated-with-tocilizumab
#15
Tadashi Hosoya, Fumitaka Mizoguchi, Hisanori Hasegawa, Keiko Miura, Ryuji Koike, Tetsuo Kubota, Nobuyuki Miyasaka, Hitoshi Kohsaka
A 30-year-old woman had suffered from recurrent and self-limiting fevers since childhood. Although she had no mutations in the exons or introns of the tumor necrosis factor (TNF) receptor superfamily member 1A gene, her clinical characteristics were consistent with those of TNF receptor-associated periodic syndrome (TRAPS). She did not respond to treatment with etanercept, although tocilizumab therapy was successful, subsequently ameliorating her symptoms and preventing further inflammatory attacks. Interleukin-6 blocking therapy should be considered as a new alternative treatment in patients with TRAPS who do not respond to etanercept...
2015: Internal Medicine
https://www.readbyqxmd.com/read/26202849/tumour-necrosis-factor-receptor-i-blockade-shows-that-tnf-dependent-and-tnf-independent-mechanisms-synergise-in-tnf-receptor-associated-periodic-syndrome
#16
Lucy C Fairclough, A Allart Stoop, Ola H Negm, Paul M Radford, Patrick J Tighe, Ian Todd
TNF receptor associated periodic syndrome (TRAPS) is an autoinflammatory disease involving recurrent episodes of fever and inflammation. It is associated with autosomal dominant mutations in TNF receptor superfamily 1A gene localised to exons encoding the ectodomain of the p55 TNF receptor, TNF receptor-1 (TNFR1). The aim of this study was to investigate the role of cell surface TNFR1 in TRAPS, and the contribution of TNF-dependent and TNF-independent mechanisms to the production of cytokines. HEK-293 and SK-HEP-1 cell lines were stably transfected with WT or TRAPS-associated variants of human TNF receptor superfamily 1A gene...
October 2015: European Journal of Immunology
https://www.readbyqxmd.com/read/26109736/recommendations-for-the-management-of-autoinflammatory-diseases
#17
REVIEW
Nienke M ter Haar, Marlen Oswald, Jerold Jeyaratnam, Jordi Anton, Karyl S Barron, Paul A Brogan, Luca Cantarini, Caroline Galeotti, Gilles Grateau, Veronique Hentgen, Michael Hofer, Tilmann Kallinich, Isabelle Kone-Paut, Helen J Lachmann, Huri Ozdogan, Seza Ozen, Ricardo Russo, Anna Simon, Yosef Uziel, Carine Wouters, Brian M Feldman, Sebastiaan J Vastert, Nico M Wulffraat, Susanne M Benseler, Joost Frenkel, Marco Gattorno, Jasmin B Kuemmerle-Deschner
: Autoinflammatory diseases are characterised by fever and systemic inflammation, with potentially serious complications. Owing to the rarity of these diseases, evidence-based guidelines are lacking. In 2012, the European project Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate regimens for the management of children and young adults with rheumatic diseases, facilitating the clinical practice of paediatricians and (paediatric) rheumatologists...
September 2015: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/26077920/from-bench-to-bedside-and-back-again-translational-research-in-autoinflammation
#18
REVIEW
Dirk Holzinger, Christoph Kessel, Alessia Omenetti, Marco Gattorno
Translational research approaches brought major changes to the understanding and treatment options of autoinflammatory diseases. Patients with common complex multifactorial diseases such as systemic-onset juvenile idiopathic arthritis (sJIA), and particularly those with rare monogenic autoinflammatory diseases such as cryopyrin-associated periodic syndromes (CAPS) or TNF receptor-associated periodic syndrome (TRAPS), benefited from a deeper understanding of the pathophysiological mechanisms and new treatment options emerging from preclinical studies...
October 2015: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/25888769/the-novel-s59p-mutation-in-the-tnfrsf1a-gene-identified-in-an-adult-onset-tnf-receptor-associated-periodic-syndrome-traps-constitutively-activates-nf-%C3%AE%C2%BAb-pathway
#19
Eliana Greco, Ada Aita, Paola Galozzi, Alessandra Gava, Paolo Sfriso, Ola H Negm, Patrick Tighe, Francesco Caso, Filippo Navaglia, Emanuela Dazzo, Marzia De Bortoli, Alessandra Rampazzo, Laura Obici, Simona Donadei, Giampaolo Merlini, Mario Plebani, Ian Todd, Daniela Basso, Leonardo Punzi
INTRODUCTION: Mutations in the TNFRSF1A gene, encoding tumor necrosis factor receptor 1 (TNF-R1), are associated with the autosomal dominant autoinflammatory disorder, called TNF receptor associated periodic syndrome (TRAPS). TRAPS is clinically characterized by recurrent episodes of long-lasting fever and systemic inflammation. A novel mutation (c.262 T > C; S59P) in the TNFRSF1A gene at residue 88 of the mature protein was recently identified in our laboratory in an adult TRAPS patient...
2015: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/24950168/a-2-year-old-japanese-girl-with-tnf-receptor-associated-periodic-syndrome-a-case-report-of-the-youngest-diagnosed-proband-in-japan
#20
Junko Yasumura, Masakuni Wago, Satoshi Okada, Ryuta Nishikomori, Syuji Takei, Masao Kobayashi
We report a 2-year-old girl with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) who is the youngest proband diagnosed in Japan. Recurrent fever had started at her 6 months of age, and she had the familial history of recurrent fever, suggesting underlying genetic disorder, in her father and grandfather. Careful clinical observation of characteristics of fever with disease course and the familial history of recurrent fever may lead to diagnosis of TRAPS in early infancy.
September 2016: Modern Rheumatology
keyword
keyword
81703
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"