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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.
miR-558 Reduces the Damage of HBE Cells Exposed to Cigarette Smoke Extract by Targeting TNFRSF1A and Inactivating TAK1/MAPK/NF-κB Pathway
Published in Immunological Investigations, 2022
Xubo Jing, Zhaoji Luan, Baoliang Liu
TNF Receptor Superfamily Member 1A (TNFRSF1A), as one of the primary transmembrane receptors for TNF-α, has been found to be involved in several diseases (Borghini et al. 2011; Hu et al. 2019). Moreover, we learned that TNFRSF1A encoding protein was one of the main receptors in TNF-α signaling pathway that activated nuclear factor kappa-B (NF-κB), regulated apoptosis and severed as a modulator of inflammation (McDermott 2001; Skyba et al. 2010). For example, TNFRSF1A polymorphism was presented to attenuate the severity of numerous sclerosis patients by reducing age at disease onset and retarding disease development (Comabella et al. 2013). Moreover, TNFRSF1A also acted as a downstream gene of miR-29a to increase the damage of AR42J cells in acute pancreatitis (Fu et al. 2016). Also, TNFRSF1A was discovered to be functioned as a prediction of glioblastoma patients’ therapy response (Wang et al. 2018). Additionally, high expression of TNFRSF1A was found in patients with chronic hepatitis C (Yue et al. 2020). However, research on the function and potential mechanism of TNFRSF1A in COPD remains limited.
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
By the nationwide survey in Japan, 51 TRAPS patients from 33 families have been identified [1]. The variants of TNFRSF1A gene were diverse and eight Japanese-specific mutations were found. Among gene variants, mutations of cysteine residues, which forms a disulfide bond in the extracellular domain of TNFR1 are called structural mutations and related to severe clinical manifestations [6]. TRAPS is also associated with nonstructural mutations that have tendency to show mild clinical and prognostic features. Our case has a C70S mutation, which is a structural mutation in the TNFRSF1A gene reported only in Japan and speculated to disrupt one of the three disulfide bonds in cysteine rich domain 2 in the extracellular domain of TNFR1 [1]. In fact, she had recurrent episodes of prolonged fever attacks every1-2 months since two months after birth and showed elevated inflammatory markers.
The Effect of Myopenia on the Inflammatory Response Early after Colorectal Surgery
Published in Nutrition and Cancer, 2018
Boudewijn J. J. Smeets, David J. Brinkman, Eelco C. J. Horsten, Jacqueline A. E. Langius, Harm J. T. Rutten, Wouter J. de Jonge, Misha D. P. Luyer
Venous blood samples were collected before surgery and 4 h after start of surgery to measure interleukin 8 (IL-8) and soluble tumor necrosis factor receptor 1 (TNFRSF1A) as specific markers of the innate systemic inflammatory response. TNFRSF1A is a transmembrane receptor through which tumor necrosis factor (TNF)-α exerts its effects, and gives a good representation of TNF-α plasma concentrations (25). EDTA-treated plasma was separated by centrifugation and stored at −80°C within 30 min until further analysis. Plasma concentrations of inflammatory markers were determined in plasma samples with an enzyme-linked immunosorbent assay (Hycult Biotech, Uden, The Netherlands). Furthermore, first postoperative C-reactive protein (CRP) levels were determined in plasma by means of an immunoturbodimetric assay (Roche/Hitachi cobas c system, Roche, Mannheim, Germany) as a part of routine clinical care on postoperative day 1, 2, or 3.