Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyper-IgD syndrome

Hyper-IgD syndrome is an autosomal recessive disorder caused by mutations of the MVK gene. It is characterized clinically by recurrent fever, lymphadenopathy, cutaneous rash and arthralgia and chemically by elevated immunoglobulin D levels.

Systematic

Mevalonate kinase-associated inflammatory diseases
Hyper-IgD syndrome
MVK
Mevalonic aciduria
Porokeratosis 3

References:

1.

Drenth JP et al. (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group.

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2.

Houten SM et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

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3.

Drenth JP et al. (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

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4.

Cuisset L et al. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

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5.

Houten SM et al. (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.

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6.

Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

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7.

D'Osualdo A et al. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

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8.

Balgobind B et al. (2005) Retinitis pigmentosa in mevalonate kinase deficiency.

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9.

Siemiatkowska AM et al. (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

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10.

van der Meer JW et al. (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.

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11.

Drenth JP et al. (2001) Hereditary periodic fever.

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12.

Obici L et al. (2004) First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome.

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13.

Drenth JP et al. (1994) Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group.

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14.

OMIM.ORG article

Omim 260920 [^]
15.

Orphanet article

Orphanet ID 343 [^]
16.

Wikipedia article

Wikipedia EN (Hyper-IgD_syndrome) [^]
Update: April 29, 2019