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Article

Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.

Arthritis and rheumatism - 1 Nov 2005

Hospach Toni, Lohse Pia, Heilbronner Helmut, Dannecker Guenther E, Lohse Peter

Abstract excerpt

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is a recessively inherited recurrent fever syndrome. We describe a family of 2 monozygotic twins and their mother with characteristic symptoms of HIDS, but normal levels of IgD and IgA, and with a dominant inheritance pattern. Mevalonate kinase (MK) activity was deficient in both children, and analysis of the MVK gene revealed compound heterozygosity...

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Identifiers

PMID: 16255052
DOI: 10.1002/art.21381

Genes

MVK

Variants

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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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Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins.PMID 16255052Read ↗

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Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.Semantic proximity Read ↗

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.Semantic proximity Read ↗

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.Semantic proximity Read ↗

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

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