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Article

Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndrome.

Rheumatology international - 1 Dec 2012

Mizuno Takahisa, Sakai Hidemasa, Nishikomori Ryuta, Oshima Koichi, Ohara Osamu, Hata Ikue, Shigematsu Yosuke, Ishige Takashi, Tamura Kazushi, Arakawa Hirokazu

Abstract excerpt

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS) is a recessively inherited recurrent fever syndrome. We describe a family of eldest son and monozygotic twin younger sisters with characteristic syndrome of HIDS, but normal level of IgD. Mevalonate kinase (MK) activity was deficient in all of them, and analysis of the MVK gene revealed compound heterozygosity for 2 new mutations, one of which was the...

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Source

Identifiers

PMID: 22159817
DOI: 10.1007/s00296-011-2225-z

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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