Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Date publication

septembre 2014

Journal

Arthritis & rheumatology (Hoboken, N.J.)

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence

Tous les auteurs :
Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/24891336

Résumé

Autoinflammatory disorders are caused by a primary dysfunction of the innate immune system. Among these disorders are hereditary recurrent fevers, which are characterized by recurrent episodes of fever and inflammatory manifestations affecting multiple tissues. Hereditary recurrent fevers often lack objective diagnostic criteria, thereby hampering the identification of disease-causing genes. This study was undertaken to identify a gene responsible for hereditary recurrent fevers.

Mots clés

Adult, Child, Preschool, DNA Copy Number Variations, Female, Genotype, Hereditary Autoinflammatory Diseases, genetics, Humans, Immunity, Innate, genetics, Male, Middle Aged, Mutation, Receptor Activator of Nuclear Factor-kappa B, genetics