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.
Mevalonat-Kinase assoziierte entzündliche Erkrankungen | ||||
Hyper-IgD-Syndrom | ||||
MVK | ||||
Mevalonsäure-Azidurie | ||||
Porokeratose 3 | ||||
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. |
2. |
Houten SM et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. |
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. |
4. |
Cuisset L et al. (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. |
5. |
Houten SM et al. (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. |
6. |
Prietsch V et al. (2003) Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. |
7. |
D'Osualdo A et al. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. |
8. |
Balgobind B et al. (2005) Retinitis pigmentosa in mevalonate kinase deficiency. |
9. |
Siemiatkowska AM et al. (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. |
10. |
van der Meer JW et al. (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. |
11. |
Drenth JP et al. (2001) Hereditary periodic fever. |
12. |
Obici L et al. (2004) First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. |
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. |
14. |
OMIM.ORG article Omim 260920 |
15. |
Orphanet article Orphanet ID 343 |
16. |
Wikipedia Artikel Wikipedia DE (Hyper-IgD-Syndrom) |