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.
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Drenth JP, Van Der Meer JW. Hereditary periodic fever. New Eng J Med. 2001; 345:1748–1757.
Mandey SHL, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006;27:796–802.
Lawrence A, Hol F, Aggarwal A, Drenth JPH. Hyperimmunoglobulinemia D syndrome in India: report of two siblings with a novel mutation. Ann Rheum Dis. 2006;65:1674–1676.
Schneiders MS, Houten SM, Turkenburg M, Wanders RJ, Waterham HR. Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency. Arthritis Rheum. 2006;54:2306–2313.
Houten SM, Frenkel J, Waterham HR. Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation. Cell Mol Life Sci. 2003;60:1118–1134.
Drenth JPH, Goertz J, Daha MR, van der Meer JWM. Immunoglobulin D enhances the release of tumour necrosis factor alpha, interleukin- 1 beta as well as interleukin-1 receptor antagonist from human mononuclear cells. Immunology. 1996;88:355–362.
Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13.
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993;91:915–921.
Church LD, Churchman SM, Hawkins PN, McDermott MF. Hereditary auto-inflammatory disorders and biologics. Springer Semin Immunopathol. 2006;27: 494–508.
Topaloðlu R, Ayaz NA, Waterham HR, Yüce A, Gumruk F, Sanal O. Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up. Clin Rheumatol. 2008;27:1317–1320.
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Sinha, A., Waterham, H.R., Vijesh Sreedhar, K. et al. Novel mutations causing hyperimmunoglobulin d and periodic fever syndrome. Indian Pediatr 49, 583–585 (2012). https://doi.org/10.1007/s13312-012-0099-0
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DOI: https://doi.org/10.1007/s13312-012-0099-0