scholarly journals Late-onset tumor necrosis factor receptor–associated periodic syndrome in multiple sclerosis patients carrying theTNFRSF1A R92Q mutation

2007 ◽  
Vol 56 (8) ◽  
pp. 2774-2783 ◽  
Author(s):  
Tania Kümpfel ◽  
Lisa-Ann Hoffmann ◽  
Heike Rübsamen ◽  
Walter Pöllmann ◽  
Wolfgang Feneberg ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Tumor Necrosis Factor ◽  
Tumor Necrosis ◽  
Late Onset ◽  
Tumor Necrosis Factor Receptor ◽  
Periodic Syndrome ◽  
Multiple Sclerosis Patients ◽  
Necrosis Factor

Symptoms Related to Tumor Necrosis Factor Receptor 1-associated Periodic Syndrome, Multiple Sclerosis, and Severe Rheumatoid Arthritis in Patients Carrying the TNF Receptor Superfamily 1A D12E/p.Asp41Glu Mutation

2013 ◽  
Vol 40 (3) ◽  
pp. 261-264 ◽  
Author(s):  
JOACHIM HAVLA ◽  
PETER LOHSE ◽  
LISA ANN GERDES ◽  
REINHARD HOHLFELD ◽  
TANIA KÜMPFEL
Keyword(s):  
Rheumatoid Arthritis ◽  
Multiple Sclerosis ◽  
Tumor Necrosis Factor ◽  
Tumor Necrosis ◽  
Tumor Necrosis Factor Receptor ◽  
Periodic Syndrome ◽  
Tnf Receptor ◽  
Autoinflammatory Disorder ◽  
Inherited Mutations ◽  
Necrosis Factor

Objective.Tumor necrosis factor (TNF) receptor 1–associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by autosomal dominantly inherited mutations in the TNF receptor superfamily 1A (TNFRSF1A) gene. The D12E substitution has been described only once to date, in a 4-year-old boy with fever.Methods.For DNA sequence analysis of the TNFRSF1A gene, genomic DNA was isolated, amplified by PCR, purified, and sequenced.Results.We describe 3 families (8 subjects) with the TNFRSF1A D12E substitution and TRAPS-related symptoms, in 4 cases associated with the autoimmune diseases multiple sclerosis and rheumatoid arthritis.Conclusion.The clinical phenotype might be associated with the TNFRSF1A D12E mutation. There is a close pathophysiological relationship between TNF signaling and autoimmune disorders.

Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family

2007 ◽  
Vol 17 (3) ◽  
pp. 265-266 ◽  
Author(s):  
Kae Takagi ◽  
Yasushi Kawaguchi ◽  
Satoshi Fujikawa ◽  
Tomoko Otani ◽  
Tomoko Sugiura ◽  
...  
Keyword(s):  
Tumor Necrosis Factor ◽  
Tumor Necrosis ◽  
Tumor Necrosis Factor Receptor ◽  
Periodic Syndrome ◽  
Japanese Family ◽  
Necrosis Factor

scholarly journals The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome

2002 ◽  
Vol 46 (8) ◽  
pp. 2181-2188 ◽  
Author(s):  
Catherine Dodé ◽  
Marc André ◽  
Thierry Bienvenu ◽  
Pierre Hausfater ◽  
Christophe Pêcheux ◽  
...  
Keyword(s):  
Tumor Necrosis Factor ◽  
Tumor Necrosis ◽  
Tumor Necrosis Factor Receptor ◽  
Periodic Syndrome ◽  
Clinical Genetic ◽  
Necrosis Factor
Sign in / Sign up

Export Citation Format

Share Document