Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.

@article{Santos2014HyperIgDAP,
  title={Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.},
  author={Joana Almeida Santos and Juan I Ar{\'o}stegui and Maria Jo{\~a}o Rocha Brito and Conceiç{\~a}o Neves and Marta Conde},
  journal={Gene},
  year={2014},
  volume={542 2},
  pages={217-20}
}
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations 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. Here we report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since… CONTINUE READING