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Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.

Ebun OmoyinmiDorota RowczenioNeil SebirePaul A BroganDespina Eleftheriou
Published in: Pediatric rheumatology online journal (2021)
Our report highlights the broad clinical phenotype of MKD that includes severe cutaneous vasculitis and emphasizes the need to consider early genetic screening for young children presenting with vasculitis to exclude a monogenic vasculitis which may be amenable to targeted treatment.
Keyphrases
  • case report
  • genome wide
  • cancer therapy
  • protein kinase
  • copy number