hyperimmunoglobulinaemia D and periodic fever syndrome

hyperimmunoglobulinaemia D and periodic fever syndrome

An autosomal recessive condition (OMIM:260920) characterised by recurrent episodes of unexplained high fever associated with skin rash, diarrhoea, lymphadenopathy, joint pain and arthritis. IgD, and often IgA, are above normal.

Molecular pathology
Defects of MVK on chromosome 12q24, which encodes mevalonate kinase, causes hyperimmunoglobulinaemia D and periodic fever syndrome.
References in periodicals archive ?
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 1999; 22: 175-7.