Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hyper-IgD-Syndrom

Das Hyper-IgD-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen des MVK-Gens ausgelöst wird. Sie ist klinisch charakterisiert durch rezidivierende Fieber-Attacken, Lymphadenopathie, Hautrötungen und Gelenkschmerzen. Biochemisch findet sich eine deutliche IgD-Erhöhung.

Gliederung

Mevalonat-Kinase assoziierte entzündliche Erkrankungen
Hyper-IgD-Syndrom
MVK
Mevalonsäure-Azidurie
Porokeratose 3

Referenzen:

1.

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

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2.

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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3.

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

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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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

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10.

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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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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