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(TNF receptor associated periodic syndrome)
196 results
  • Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. [Review]
    Int J Mol Sci. 2020 May 05; 21(9)Cudrici C, Deuitch N, Aksentijevich I
  • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory syndrome characterized by prolonged and recurrent episodes of fever, abdominal and/or chest pain, arthralgia, myalgia, and erythematous rash. TRAPS is associated with heterozygous variants in the TNFRSF1A gene, which encodes the TNFR1 (tumor necrosis factor receptor 1) receptor. Disease-c…
  • Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome. [Review]
    Rheumatology (Oxford). 2019 11 01; 58(Suppl 6):vi31-vi43.Kacar M, Pathak S, Savic S
  • The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for wh…
  • Osteoporosis in Systemic Autoinflammatory Diseases: A Case-Control Study. [Journal Article]
    Front Endocrinol (Lausanne). 2019; 10:636.Bindoli S, Franceschet G, … Sfriso P
  • CONCLUSIONS: Patients of our cohort affected by FMF, TRAPS, and MKD do not present an increased risk of OP compared to the healthy controls. TBS and BMD are similar between the two groups underlining a preserved bone quality in patients. High OPG levels could suggest a protective role and a bone re-balancing action in response to an inflammatory background. Finally, it should be taken into account a modulatory role played by a pro-inflammatory cytokine such as SAA on bone homeostasis.
  • [A family of tumor necrosis factor receptor-associated periodic syndrome]. [Journal Article]
    Zhonghua Er Ke Za Zhi. 2019 Jun 02; 57(6):477-482.Li S, Ou RQ, … Tan WP
  • CONCLUSIONS: TRAPS is characterized by periodic fever,arthralgia,myalgia,multiple serositis,periorbital edema and migratory cutaneous rash,with a significant decrease in plasma level of TNFR1 and NK cells. The gene sequencing analysis revealed a pathogenic variation in TNFRSF1A gene.
  • Periodic fevers and other autoinflammatory diseases. [Journal Article]
    Cas Lek Cesk. Summer 2018; 157(3):122-129.Fingerhutová Š, Jančová E, … Doležalová P
  • Autoinflammatory diseases represent a relatively new and rapidly evolving group of rare disorders associated with mutations of genes encoding proteins with a key regulatory role in inflammatory response. Gradual discovery of mechanisms that link genetic disorder with its biochemical and immunological consequences leading to continuous or episodic inflammatory stimulation has enabled introduction …
  • The patient journey to diagnosis and treatment of autoinflammatory diseases. [Journal Article]
    Orphanet J Rare Dis. 2018 09 06; 13(1):156.Hausmann JS, Lomax KG, … Durrant K
  • CONCLUSIONS: All families emphasized the need for efficient early diagnosis of AIDs. Initiatives that improve the speed and accuracy of diagnosis, provide more comprehensive patient education, and support patients and families through the illness have the potential to significantly improve the quality of life of patients with AIDs and their families. Healthcare providers should be aware of the impact of the long diagnostic journey on families and work to create an environment of trust and collaboration in the face of a difficult and prolonged diagnostic process.
  • Periodic fever syndromes. [Review]
    Best Pract Res Clin Rheumatol. 2017 08; 31(4):596-609.Lachmann HJ
  • Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD. Understanding the molecular pathogenesis of these disorders provides unique…
  • [Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]. [Journal Article]
    Rev Med Interne. 2018 Apr; 39(4):256-264.Georgin-Lavialle S, Kone-Paut I, … Hentgen V
  • Tumour necrosis receptor associated periodic syndrome (TRAPS) is a rare cosmopolitan dominant autosomal disease that belongs to the group of recurrent autoinflammatory syndromes. TRAPS is characterized by recurrent bouts of fever lasting more than 7 days, with arthralgia, myalgia, abdominal pain, erythematous rash and sometimes ocular symptoms. During flares, raised inflammatory markers are const…
  • Autophagy dysfunction in autoinflammatory diseases. [Review]
    J Autoimmun. 2018 03; 88:11-20.Hua Y, Shen M, … Yao Q
  • Autoinflammatory diseases (AUIDs) are a genetically heterogeneous group of rheumatic diseases characterized by episodic inflammation linked with dysregulated innate immune responses. In this review, we summarize the molecular mechanisms altered by disease-associated variants in several AUIDs, including NOD2-associated diseases, TNF receptor-associated periodic syndrome (TRAPS), familial Mediterra…
  • Tumor necrosis factor-associated periodic syndrome in adults. [Review]
    Rheumatol Int. 2018 Jan; 38(1):3-11.Menon SG, Efthimiou P
  • 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 doc…
  • Autoinflammatory Diseases with Periodic Fevers. [Review]
    Curr Rheumatol Rep. 2017 Jul; 19(7):41.Sag E, Bilginer Y, Ozen S
  • 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.
  • Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. [Review]
    Paediatr Drugs. 2017 Aug; 19(4):303-311.Ozen S, Demir S
  • 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…
  • Canakinumab for the treatment of TNF-receptor associated periodic syndrome. [Review]
    Expert Rev Clin Immunol. 2017 06; 13(6):513-523.La Torre F, Caparello MC, Cimaz R
  • TNF-receptor-associated periodic syndrome is an autoinflammatory disorder caused by mutations in TNF receptor superfamily 1A gene. The molecular pathogenesis of TRAPS remains unclear; it is known that a key role is played by mutations in TNFRSF1A that induce the hypersecretion of pro-inflammatory cytokines as well as IL-1β, resulting in uncontrolled inflammatory reactions. Furthermore, TNFRSF1A g…
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