Novel Mutations causing Hyperimmunoglobulin D and Periodic Fever Syndrome.
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Date
2012-07
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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.
Description
Keywords
Diagnosis, Mevalonate kinase, HIDS, India, Mutation
Citation
Sinha Aditi, Waterham Hans R, Sreedhar K Vijesh, Jain Vandana. Novel Mutations causing Hyperimmunoglobulin D and Periodic Fever Syndrome. Indian Pediatrics. 2012 July; 49(7): 583-585.