scholarly journals Falling into TRAPS – receptor misfolding in the TNF receptor 1-associated periodic fever syndrome

2007 ◽  
Vol 9 (4) ◽  
pp. 217 ◽  
Author(s):  
Fiona C Kimberley ◽  
Adrian A Lobito ◽  
Richard M Siegel ◽  
Gavin R Screaton
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Tnf Receptor

TNF Receptor-associated Periodic Fever Syndrome (TRAPS) Caused by a Novel C30F Mutation Associated with the Common R92Q Low-Penetrance Mutation in TNFRSF1A

2007 ◽  
Vol 123 ◽  
pp. S90
Author(s):  
Joao B. Oliveira ◽  
Adriana Jesus ◽  
Ivona Aksentijevich ◽  
Clovis Silva ◽  
Alberto J.S. Duarte
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Tnf Receptor ◽  
The Common

Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome

Rheumatology ◽  
2019 ◽  
Vol 59 (8) ◽  
pp. 1969-1974 ◽  
Author(s):  
Mengzhu Zhao ◽  
Yi Luo ◽  
Di Wu ◽  
Yunjiao Yang ◽  
Yang Sun ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Disease Onset ◽  
Adult Patients ◽  
Tumour Necrosis Factor Receptor ◽  
Diagnosis Delay ◽  
Periodic Fever Syndrome ◽  
Tnf Receptor ◽  
Chinese Adult ◽  
Tnfrsf1a Gene ◽  
Genetic Features

Abstract Objectives TNF receptor-associated periodic fever syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease caused by mutations of TNF receptor superfamily member 1 A (TNFRSF1A) gene. TRAPS has hardly been reported in the Chinese population. We aimed to characterize the clinical and genetic features of Chinese adult patients with TRAPS. Methods Nine adult patients (≥16 years) were diagnosed during April 2015 to June 2019, at the Department of Rheumatology, Peking Union Medical College Hospital. Clinical and genetic features of these patients were evaluated and compared with those from Japan and Europe. Results The median age of disease onset was 3 (0.5–38.5) years old, and adult-onset was observed in two (22.2%) patients. The median time of diagnosis delay was 16.5 (1.5–50.5) years. One patient had a family history of TRAPS. The frequent symptoms were fever (nine, 100%), rash (seven, 77.8%), arthralgia/arthritis (five, 55.6%) and abdominal pain (five, 55.6%). Only two (22.2%) patients had periorbital oedema. Nine TNFRSF1A gene variants were detected, including C58R, G65E, F89L, C99G, V202G, V202D, c.769-23T>C, S290I and c.*64T>C. Rash was more frequently seen in Chinese than in Japanese and European patients, while chest pain and amyloidosis occurred less frequently. Conclusion This is the first and largest case series of TRAPS in Chinese adult patients. Two novel TNFRSF1A variants, S290I and V202G, have been identified. The different clinical manifestations of our patients compared with those from Japan and Europe might be related to their TNFRSF1A variants.

scholarly journals A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome

2009 ◽  
Vol 30 (6) ◽  
pp. 805-809 ◽  
Author(s):  
J. Trübenbach ◽  
G. Wildhardt ◽  
J. Niebel ◽  
H. Hawle ◽  
Daniela Steinberger
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Tnf Receptor ◽  
Double Mutation

scholarly journals A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs

PLoS Genetics ◽  
2011 ◽  
Vol 7 (3) ◽  
pp. e1001332 ◽  
Author(s):  
Mia Olsson ◽  
Jennifer R. S. Meadows ◽  
Katarina Truvé ◽  
Gerli Rosengren Pielberg ◽  
Francesca Puppo ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome

Making a diagnosis of periodic fever syndrome: Experience from a single tertiary centre

2021 ◽  
Author(s):  
Peter McNaughton ◽  
Sophie Willcocks ◽  
Su Han Lum ◽  
Ben Whitehead ◽  
Jane Peake ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Tertiary Centre

AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: A report of two cases

2006 ◽  
Vol 54 (6) ◽  
pp. 2010-2014 ◽  
Author(s):  
Helen J. Lachmann ◽  
Hugh J. B. Goodman ◽  
Peter A. Andrews ◽  
Hugh Gallagher ◽  
James Marsh ◽  
...  
Keyword(s):  
Periodic Fever ◽  
Periodic Fever Syndrome ◽  
Aa Amyloidosis
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