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Hyper-IgD and Periodic Fever Syndrome: a New MVK Mutation (p.R277G) Associated...
Santos, J; Aróstegui, J; Brito, MJ; Neves, C; Conde, MHyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM#260920) is a rare recessively-inherited autoinflammatory condition caused bymutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Herewe report on the case of a 2 year-old Portuguese boy with recurrent episodes...
Data: 2014
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Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE
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