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Article

Homozygous V377I mutation causing mevalonate kinase.

BMJ case reports - 6 Apr 2022

Brito Teresa, Banganho Denise, Pedrosa Cristina, Farela Neves João

Abstract excerpt

Hyperimmunoglobulinaemia D syndrome (HIDS) is a rare autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene, located on chromosome 12. The most common mutation identified in MVK gene so far is V377I. Compound heterozygotes that include this variant may exhibit a more severe phenotype of the disease and homozygotes are rarely found in clinical practice probably they express a milder...

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Identifiers

PMID: 35387795
DOI: 10.1136/bcr-2022-249135
PMCID: PMC8987701

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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