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Article

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

Rheumatology international - 1 Apr 2010

Trübenbach J, Wildhardt G, Niebel J, Hawle H, Steinberger Daniela

Abstract excerpt

Hereditary periodic fever syndromes (HPFSs) are a subset of human autoinflammatory diseases characterized by periodic episodes of fever and signs of inflammation with or without involvement of inner organs. In this paper, we report phenotypic features of an index patient and affected family members that present a previously not described mutation type in the TNFRSF1A gene. The phenotype of a HPFS of affected...

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Identifiers

PMID: 19547977
DOI: 10.1007/s00296-009-0996-2

Genes

TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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