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Article

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

Rheumatology (Oxford, England) - 1 May 2001

Frenkel J, Houten S M, Waterham H R, Wanders R J, Rijkers G T, Duran M, Kuijpers T W, van Luijk W, Poll-The B T, Kuis W

Abstract excerpt

OBJECTIVES: The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study was to examine whether a relationship exists between the clinical expression of HIDS and the extent of MK deficiency. METHODS: The medical records of children diagnosed with HIDS were reviewed for clinical features and serum immunoglobulin...

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Source

Identifiers

PMID: 11371670
DOI: 10.1093/rheumatology/40.5.579

Genes

MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.PMID 11371670Read ↗

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