Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children-Reference-Cited by-同舟云学术

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

Published:2011-10-30 Issue:10 Volume:32 Page:3253-3260
ISSN:0172-8172
Container-title:Rheumatology International
language:en
Short-container-title:Rheumatol Int

Author:

Lainka E.,Neudorf U.,Lohse P.,Timmann C.,Bielak M.,Stojanov S.,Huss K.,von Kries R.,Niehues T.

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy,Rheumatology

Link

http://link.springer.com/content/pdf/10.1007/s00296-011-2180-8.pdf

Reference31 articles.

1. Drenth JP, Cuisset L, Grateau G et al (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22:178–181

2. Houten SM, Kuis W, Duran M et al (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22:175–177

3. Korppi M, van Gijn ME, Antila K (2011) Hyperimmunoglobulinemia D and periodic fever syndromes in children. Review on therapy with biological drugs and case report. Acta Paediatr 100:21–25

4. Simon A, Kremer HPH, Wevers RA et al (2004) Mevalonate kinase deficiency. Evidence for a phenotypic continuum. Neurology 62:994–997

5. Houten SM, van Woerden CS, Wijburg FA et al (2003) Carrier frequency of the V377I (1129G > A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 11(2):196–200

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