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

ABSTRACT:

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, we detected the previously undescribed variant c.332A>G (p.Q111R) in the TNFRSF1A gene. Canakinumab proved an effective treatment option leading to remission in all treated patients. One patient with suspected renal amyloidosis showed near normalization of proteinuria under treatment. Analysis of the metabolome revealed 31 metabolic compounds to be upregulated and

SUBMITTER: Steiner JD 

PROVIDER: S-EPMC10547530 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature