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Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)

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Periodic and Non-Periodic Fevers

Part of the book series: Rare Diseases of the Immune System ((RDIS))

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Abstract

Tumor necrosis factor receptor periodic fever syndrome (TRAPS) is a hereditary fever syndrome characterized by prolonged fever episodes, myalgia and arthralgia, abdominal pain, characteristic skin rashes, and periorbital edema. It is an autosomal dominant disease caused by mutations in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene that encodes for the TNF receptor 1. It was originally thought to be predominantly in Western European countries, but cases from all around the world have now been reported. More than 140 different disease-causing mutations have been found in TRAPS, most of which are single-nucleotide missense mutations occurring within exons 2–4. TRAPS cases are at increased risk of developing AA amyloidosis, so early diagnosis and treatment are crucial to prevent the development of life-threatening complications. The advent of biological drugs has revolutionized the management of autoinflammatory syndromes, and general treatment goals now include elimination of active disease and prevention of long-term complications. Despite the great improvement in prognosis over the last years, there are still severe cases that are not completely controlled by current therapeutic regimes. Targeting candidate immune pathways that may be contributing to disease pathogenesis is an active area of research.

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Authors and Affiliations

  1. Infection, Inflammation and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UK

    Charalampia Papadopoulou

  2. Great Ormond Street Hospital NHS Foundation Trust, London, UK

    Charalampia Papadopoulou

  3. National Amyloidosis Centre and Centre for Acute Phase Proteins, Division of Medicine, Royal Free London NHS Foundation Trust, University College London, London, UK

    Helen J. Lachmann

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  1. Charalampia Papadopoulou
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  2. Helen J. Lachmann
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Correspondence to Helen J. Lachmann .

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  1. Department of Clinical Sciences and Community Health, University of Milano, Milano, Italy

    Rolando Cimaz

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Papadopoulou, C., Lachmann, H.J. (2020). Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). In: Cimaz, R. (eds) Periodic and Non-Periodic Fevers. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-030-19055-2_13

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  • DOI: https://doi.org/10.1007/978-3-030-19055-2_13

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