title: Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome.
abstract: Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9-year-old boy, diagnosed with HIDS due to two novel mutations, c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene. The pathogenicity of these mutations was confirmed by measurement of low MVK enzyme activity in cultured primary skin fibroblasts of the patient. The symptoms have been refractory to therapy with steroids and non steroidal anti inflammatory drugs. This report expands the genetic and ethnic spectrum of HIDS.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Aditi
authors.initials: A
authors.lastname: Sinha
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: K Vijesh
authors.initials: KV
authors.lastname: Sreedhar
authors.forename: Vandana
authors.initials: V
authors.lastname: Jain
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005334:Fever / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000175:diagnosis* / Q000235:genetics*; D013577:Syndrome