China
Africa
Explore chapters and articles related to this topic
Phagocytic cells and their functions
Published in Gabriel Virella, Medical Immunology, 2019
Gabriel Virella, John W. Sleasman
TNF receptor–associated periodic fever syndrome (TRAPS) leads to fever, serositis, erythematous rash, periorbital edema, conjunctivitis, and amyloidosis, as is seen in FMF. Treatment is targeted at the TNF pathway using TNF inhibitors or the use of colchicine, particularly for FMF.
Connective Tissue Diseases: ENT Complications
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
They are disorders of the inflammasome with triggers including emotional and physical stress, the menstrual cycle and pregnancy, vaccination reactions in hyper-IgD syndrome (HIDS), local mucosal trauma (e.g. in PFAFA), cold as in some cryopyrin-associated periodic syndromes (CAPS) syndromes: Familial Mediterranean fever (FMF) is due to a gene mutation MEFV, location 16p13.3 proteins affected pyrin and marenostrin. FMF may cause sensorineural hearing loss.Hyperimmunoglobulinemia D (or hyper IgD syndrome) with periodic fever syndrome (HIDS) gene mutation MVK located at 12q24, proteins affected mevalonate kinase deficiency. Most cases have marked reactions to immunizations. Febrile episodes with lymphadenopathy, rashes sometimes with hepatosplenomegaly, arthralgia, abdominal pain, irritability.Tumour necrosis factor (TNF) receptor–associated periodic syndrome (TRAPS) gene TNFRSF1A located 12p13, proteins affected TNF-receptor Type 1
TNFRSF1A Mutations in Italian Patients Affected by Apparently Sporadic Periodic Fever Syndrome
Published in Gilles Grateau, Robert A. Kyle, Martha Skinner, Amyloid and Amyloidosis, 2004
L. Obici, S. Marciano, G. Palladini, F. Lavatelli, S. Donadei, A. Cigni, A.E. Satta, L. Praderio, M. Tresoldi, G. Merlini
Genetic testing has greatly improved their diagnosis and treatment, particularly in patients without typical ethnic background. Familial Mediterranean fever (FMF), caused by mutations in MEFV, is the more prevalent and best-characterised hereditary periodic fever in Italy. However, occurrence of other hereditary fever syndromes has not been assessed. The Tumor Necrosis Factor (TNF) receptor-associated periodic syndrome (TRAPS) is a genetically distinct disorder mainly affecting people of Northern European origin. This dominantly inherited syndrome is caused by mutations in the TNFRSF1A gene, which codifies for the p55 subunit of the TNF receptor. Typical features include localized myalgia, periorbital edema, conjunctivitis and long duration of attacks, usually lasting more than one week. To date, 24 different mutations have been identified, all clustering in the first and second extracellular cysteine rich domains (CDRs) of this receptor (2). We searched for mutations in MEFV and TNFRSF1A in 48 Italian patients with unexplained, recurrent fever not fulfilling the diagnostic criteria for familial Mediterranean fever. None of these patients had a significant family history for the disease.
TNF-α potentiates uric acid-induced interleukin-1β (IL-1β) secretion in human neutrophils
Published in Modern Rheumatology, 2018
Kohei Yokose, Shuzo Sato, Tomoyuki Asano, Makiko Yashiro, Hiroko Kobayashi, Hiroshi Watanabe, Eiji Suzuki, Chikako Sato, Hideko Kozuru, Hiroshi Yatsuhashi, Kiyoshi Migita
TNF-α has been speculated to be involved with the inflammatory arthritis [7]. TNF-α was demonstrated to promote ATP-mediated caspase-1 activation and IL-1β secretion in the absence of microbial stimulation [8]. It has been shown that pretreatment with TNF-α is sufficient to induce NLRP3 inflammasome activation and IL-1β secretion in adipose tissues [9]. Recently, IL-1 inhibition has been shown to induce clinical resolution of TNF receptor-associated periodic syndrome (TRAPS) [10,11]. The understanding of pathogenesis of TRAPS leads to realize why TRAPS patient responds to IL-1 inhibition. These findings suggest that aberrant trafficking of TNF receptor-1 (TNFR1) results in intracellular stress leading to increased production of IL-1β [12]. Therefore, it is suspected that the signal from TNF receptor potentiates IL-1β release including NLRP3 inflammasome activation. We hypothesize that TNF-α stimulation sense the NLRP3 inflammasome activation as the priming signal. In the present study, we assess the role of TNF-α in inflammasome activation using in vitro model of MSU-triggered NLRP-3 inflammasome activation and IL-1β release.
Safety evaluation of adalimumab in immune-mediated inflammatory disorders: a rheumatological point of view
Published in Expert Opinion on Drug Safety, 2019
Laurence Duquenne, Hanna Gul, Paul Emery
The role of TNFα in inflammation regulation was first described in autosomal dominant auto-inflammatory diseases associated with TNFα receptor mutations, for example Tumour Necrosis Factor Associated Periodic Syndrome (TRAPS) [9]. Historically, TNF antagonists were developed as chemotherapy because of their suspected tumoricidal effect. But numerous studies failed as the medication was proven more toxic than effective [10].
A Japanese case of TNF receptor-associated periodic syndrome (TRAPS) successfully treated by canakinumab
Published in Modern Rheumatology Case Reports, 2019
Motoki Yoshimura, Hiroki Mitoma, Yasutaka Kimoto, Daisuke Oryoji, Yukimi Otsuka, Qiaolei Wang, Shoichiro Inokuchi, Masahiro Ayano, Mitsuteru Akahoshi, Yojiro Arinobu, Hiroaki Niiro, Koichi Kusuhara, Takahiko Horiuchi
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a prototype of auto-inflammatory disease of autosomal dominant inheritance caused by mutation in the TNF receptor superfamily, member 1A (TNFRSF1A) gene encoding type 1 receptor of TNF (TNFR1) [1]. TRAPS is characterised by recurrent inflammatory clinical features such as fever, arthralgia, myalgia, abdominal pain, migratory skin rash, periorbital oedema and conjunctivitis. The most important complication of TRAPS is a secondary amyloidosis due to deposition of serum amyloid A caused by chronic inflammation [2]. A nationwide study organized by the Ministry of Health, Labour and Welfare(MHLW) of Japan (chairman; Professor Takahiko Horiuchi of Kyushu University) revealed that there are at least 33 TRAPS families carrying TNFRSF1A variants in Japan. Although the pathophysiology of TRAPS has not been elucidated, a number of hypotheses have been proposed [3,4]. At first, reduced shedding of TNFR1 on cell membrane caused by the mutation in the TNFRSF1A gene was considered to culminate in the increased the expression of TNFR1 on cell membrane [3]. Subsequently, a defect in apoptosis or autophagy, increased nuclear factor-kB(NF-kB) transcription factor activation and/or retention of mutant TNFR1 in the endoplasmic reticulum were suggested to be responsible for TRAPS [4]. These proposed mechanisms eventually lead to augmented response to or increased production of inflammatory cytokines, such as TNF, interleukin (IL)-6 and IL-1β. The therapeutic options of TRAPS include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, etanercept (anti-TNF), tocilizumab (anti-IL-6), anakinra (IL-1R antagonist) and canakinumab (anti-IL-1β) [2,5–8]. Among these anti-cytokine drugs, canakinumab has been approved for TRAPS on December 2016 in Japan. Here, this is a first case report of Japanese TRAPS patient successfully treated by canakinumab. This patient had been responsive to prednisolone (PSL) and etanercept for over ten years, however finally turned out to be resistant to these two agents.