Read by QxMD icon Read

tumor necrosis factor receptor-associated periodic syndrome

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...
January 4, 2017: Clinical Reviews in Allergy & Immunology
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...
December 19, 2016: International Journal of Rheumatic Diseases
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
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 gene that expresses 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 the case of 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
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
Naoyasu Ueda, Hiroaki Ida, Masakazu Washio, Hisaaki Miyahara, Shoji Tokunaga, Fumiko Tanaka, Hiroki Takahashi, Koichi Kusuhara, Koichiro Ohmura, Manabu Nakayama, Osamu Ohara, Ryuta Nishikomori, Seiji Minota, Shuji Takei, Takao Fujii, Yoshiaki Ishigatsubo, Hiroshi Tsukamoto, Tomoko Tahira, Takahiko Horiuchi
Objectives A nationwide survey was conducted to elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan. Methods Inquiries were sent to 2,900 departments of internal medicine and pediatrics in all the hospitals with over 200 beds in Japan, asking whether they had patients suspected of having tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Genetic tests for TNFRSF1A, MEFV, and MVK were performed on 169 patients. Cell surface expression of TNFRSF1A variants was assessed using 293T cells...
June 22, 2016: Arthritis & Rheumatology
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
Marco Cattalini, Martina Soliani, Giuseppe Lopalco, Donato Rigante, Luca Cantarini
Monogenic autoinflammatory disorders (AIDs) are rare diseases driven by cytokine-mediated extraordinary sterile inflammation that results from the activation of innate immune pathways. The clinical hallmark of these diseases is the recurrence of stereotyped episodes of systemic- and organ-specific inflammation; the most common systems involved being the skin, musculoskeletal system, gastrointestinal tract, and central nervous system. The autoinflammatory disorders may have a profound impact on the quality of life of the affected patients, and a delayed diagnosis may lead to severe complications, the most dreadful of which is AA-Amyloidosis...
September 2016: Internal and Emergency Medicine
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...
May 13, 2016: International Journal of Molecular Sciences
Donato Rigante, Bruno Frediani, Luca Cantarini
Innate immunity is a critical partner in the regulation of inflammation and some mutations in genes implied in innate immunity pathways can cause genetic disorders characterized by seemingly unprovoked self-limited inflammatory attacks. These rare conditions are collectively named "hereditary periodic fever syndromes" (HPFS), and protean pathogenetic mechanisms combined with several clinical phenotypes characterize at least four distinct conditions: (1) familial Mediterranean fever, which is the prototype and the most widely recognized among HPFS, inherited as an autosomal recessive disorder showing recurrent dysregulated inflammatory processes, caused by an abnormal interaction between cytoskeleton and inflammasome, a key-signaling platform that releases interleukin-1β (IL-1β); (2) the group of cryopyrin-associated periodic syndrome, which upsets directly the production of IL-1β, with a dominant pattern of inheritance; (3) tumor necrosis factor receptor-associated periodic syndrome, which is an autosomal dominant disorder subverting the functions and traffic of a cell membrane protein; and (4) mevalonate kinase deficiency, which is an autosomal recessive metabolic disorder halting the biosynthesis of cholesterol...
April 11, 2016: Clinical Reviews in Allergy & Immunology
N Rodziewicz, S Bhushan, A Avasia, N Singh
Tumor necrosis factor receptor -1-associated periodic syndrome (TRAPS) is a rare disease that may result in chronic kidney disease due to secondary amyloidosis. We report a case of a patient with a history of TRAPS who received a kidney transplant 11 years ago and still has functioning kidney transplant despite recurrence of amyloidosis and proteinuria.
January 2016: Transplantation Proceedings
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
Qingping Yao, Felicitas Lacbawan, Jianbo Li
OBJECTIVE: Systemic autoinflammatory diseases (SAIDs) mainly include monogenic hereditary periodic fever syndromes, and NOD2-associated AID (NAID) is a polygenic SAID. Our aim was to study the disease frequency and report our diagnostic experience. METHODS: A total of 266 adult patients with clinical phenotypes suspicious for SAIDs were studied at the Cleveland Clinic between November 2009 and February 2015. All patients were genotyped for NOD2 mutations or periodic fever syndrome panel...
April 2016: Seminars in Arthritis and Rheumatism
Erkan Demirkaya, Celal Saglam, Turker Turker, Isabelle Koné-Paut, Pat Woo, Matteo Doglio, Gayane Amaryan, Joost Frenkel, Yosef Uziel, Antonella Insalaco, Luca Cantarini, Michael Hofer, Sorina Boiu, Ali Duzova, Consuelo Modesto, Annette Bryant, Donato Rigante, Efimia Papadopoulou-Alataki, Severine Guillaume-Czitrom, Jasmine Kuemmerle-Deschner, Bénédicte Neven, Helen Lachmann, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Seza Ozen
OBJECTIVE: Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF). METHODS: Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry...
January 2016: Journal of Rheumatology
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
G Horneff
Systemic autoinflammatory diseases are a group of hereditary and non-hereditary diseases of the innate immune system, characterized by inflammation with no apparent cause, recurrence at irregular intervals and manifestation on the skin, mucous membranes, joints, bone, gastrointestinal tract, blood vessels and the central nervous system (CNS). Amyloidosis and other possibly severe long-term complications are important. Advances in genetics and molecular biology have improved understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome and improved others...
August 2015: Zeitschrift Für Rheumatologie
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
Takeshi Sato, Koji Muroya, Yumi Asakura, Akihiro Yachie, Gen Nishimura, Noriko Aida, Jiro Machida, Yukichi Tanaka, Tomonobu Hasegawa, Masanori Adachi
We report on a boy who presented with hypophosphatemic rickets with elevated serum fibroblast growth factor 23 (FGF23) and polyostotic osteolytic lesions at age 2 years. Tumor-induced hypophosphatemic rickets was suspected; however, bone biopsy for osteolytic changes revealed no tumorous change, except for irregularly dilated vessels associated with osteoclasts and fibrous proliferation. Venous sampling failed to point to FGF23-producing foci. After alfacalcidol and phosphate supplementation, the rachitic skeletal changes improved, but FGF23 increased and new osteolytic lesions developed...
October 2015: American Journal of Medical Genetics. Part A
Francesco La Torre, Maurizio Muratore, Antonio Vitale, Fulvio Moramarco, Laura Quarta, Luca Cantarini
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disease caused by mutations in the TNFRSF1A gene. Treatment is aimed at preventing acute disease attacks, improving quality of life, and preventing long-term complications such as systemic reactive amyloidosis. Biologic agents have significantly improved TRAPS management. In particular, interleukin 1 (IL-1) inhibition either with the recombinant IL-1 receptor antagonist anakinra or with the human IgG1 anti-IL-1β monoclonal antibody canakinumab has recently shown to induce a prompt and stable disease remission...
November 2015: Rheumatology International
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
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"