AIFEC syndrome is an autosomal dominant autoinflammatory bowel disease which is characterized by early-onset in infancy with episodes of recurrend fever accopanied by gastointestinal symptoms.
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Canna SW et al. (2014) An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. |
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Romberg N et al. (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. |