Different presentations of mevalonate kinase deficiency: A case series

Carlo De Pieri, Andrea Taddio, Antonella Insalaco, Egidio Barbi, Loredana Lepore, Alessandro Ventura, Alberto Tommasini

Research output: Contribution to journalArticlepeer-review


Objective: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. Methods: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. Results: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical profiles were characterised. Conclusion: We propose a new perspective on MKD, suggesting that the presentation of this disease can vary from patient to patient.

Original languageEnglish
Pages (from-to)437-442
Number of pages6
JournalClinical and Experimental Rheumatology
Issue number3
Publication statusPublished - 2015


  • Autoinflammatory syndromes
  • Hyper-IgD syndrome
  • Mevalonate kinase deficency
  • Periodic fever

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Immunology and Allergy


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