A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signature

OBJECTIVE: We describe a family with a novel mutation in the TNF Receptor Superfamily Member 1A (TNFRSF1A) gene causing TNF receptor–associated periodic syndrome (TRAPS) with renal AA amyloidosis. METHODS: Case series of affected family members. We further investigated the plasma metabolome of these...

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Detalles Bibliográficos
Autores principales: Steiner, Joachim D, Annibal, Andrea, Laboy, Raymond, Braumann, Marie, Göbel, Heike, Laasch, Valentin, Müller, Roman-Ulrich, Späth, Martin R, Antebi, Adam, Kubacki, Torsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Basic Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547530/
https://www.ncbi.nlm.nih.gov/pubmed/36752501
http://dx.doi.org/10.1093/rheumatology/kead068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547530/
https://www.ncbi.nlm.nih.gov/pubmed/36752501
http://dx.doi.org/10.1093/rheumatology/kead068

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