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Homozygous V377I mutation causing mevalonate kinase
  1. Teresa Brito1,
  2. Denise Banganho1,
  3. Cristina Pedrosa1 and
  4. João Farela Neves2
  1. 1Pediatrics Department, Hospital de São Bernardo, Centro Hospitalar de Setúbal, EPE, Setubal, Portugal
  2. 2Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, EPE, Setubal, Portugal
  1. Correspondence to Denise Banganho; denise_banganho{at}hotmail.com

Abstract

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 phenotype. HIDS is a chronic autoinflammatory disease characterised by recurrent febrile episodes, associated with lymphadenopathies, abdominal pain, rash and arthritis. These flares can be triggered by vaccination, minor trauma, surgery and stress.

We report a case of a 2-year-old girl who had recurrent attacks of fever associated with cervical lymphadenopathy, macular erythematous skin rash, abdominal pain and aphthous ulcers in the mouth. The patient was found to excrete elevated amounts of urinary mevalonic acid and a homozygous V337I mutation in the MVK gene was identified.

  • Genetic screening / counselling
  • Congenital disorders
  • Infant health

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Footnotes

  • Contributors TB and DB: data acquisition and interpretation; writing and approval of the manuscript; CP and JFN: revision and approval of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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