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Les maladies auto-inflammatoires associées aux mutations de NLRC4 : revue systématique de la littérature. / [NLRC4 associated autoinflammatory diseases: A systematic review of the current literature].

Rev Med Interne; 39(4): 279-286, 2018 Apr.
Artigo em Francês | MEDLINE | ID: mdl-29496273
The auto-inflammatory diseases linked to NLRC4 mutations are recently described entities. Transmission is autosomal dominant in 80 % of cases; cases of somatic mutation have already been reported. The disease may display two very different clinical phenotypes: the phenotype 1 (30 %), severe, is dominated by a multisystemic inflammation starting in the first year of life with symptoms of chronic inflammatory bowel disease (IBD), macrophagic actication syndrome (MAS), or even a presentation sugges