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Article

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

Medicine - 1 Nov 2008

van der Hilst Jeroen C H, Bodar Evelien J, Barron Karyl S, Frenkel Joost, Drenth Joost P H, van der Meer Jos W M, Simon Anna

Abstract excerpt

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. In addition, we studied the quality of life and course...

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Source

Identifiers

PMID: 19011501
DOI: 10.1097/MD.0b013e318190cfb7

Genes

MVK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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