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

J. Trübenbach (1) , G. Wildhardt (1) , J. Niebel (2) , H. Hawle (2) , Daniela Steinberger (1, 3)

1 bio.logis, Center for Human Genetics Frankfurt
2 Deutsche Klinik für Diagnostik
3 Institute for Human Genetics

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 gene. The phenotype of a HPFS of affected family members was shown to be associated with two monoallelic mutations in . Primarily, the index patient was clinically diagnosed as being affected by familial Mediterranean fever (FMF). However, with molecular genetic analyses, it could be shown that the patient was in fact affected by tumor necrosis factor receptor-associated periodic syndrome, which requires a different therapy when compared with FMF. Thus, molecular genetic analyses of currently known disease loci enable the most precise diagnosis presently available and are consequently the basis for the most effective therapeutic intervention.

Mots clés: TRAPS; Hereditary periodic fever syndrome; Autoinflammatory syndromes; Monoallelic mutation

J. Trübenbach, G. Wildhardt, J. Niebel, H. Hawle, Daniela Steinberger. A monoallelic double mutation as a cause for TNF receptor-associated periodic fever syndrome. Rheumatology International, 2009, 30 (6), pp.805-809. ⟨10.1007/s00296-009-0996-2⟩. ⟨hal-00568296⟩