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Article

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

Rheumatology (Oxford, England) - 3 Oct 2023

Steiner Joachim D, Annibal Andrea, Laboy Raymond, Braumann Marie, Göbel Heike, Laasch Valentin, Müller Roman-Ulrich, Späth Martin R, Antebi Adam, Kubacki Torsten

Abstract excerpt

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 patients in comparison with healthy controls using mass spectrometry. RESULTS: In all symptomatic family members,...

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Identifiers

PMID: 36752501
DOI: 10.1093/rheumatology/kead068
PMCID: PMC10547530

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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