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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 NA. Research is sponsored by a mix of industry and academic institutions.
40 publications have been identified in PubMed for mevalonate kinase deficiency. Research spans Case Report / Case Series (48%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 19 |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries | 7 | 18% |
Laboratory research | 6 | 15% |
Disease patterns and progression | 5 | 13% |
Other research | 3 | 8% |
Pugliese A (2026). [PMID: 41680896](https://pubmed.ncbi.nlm.nih.gov/41680896/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Tas-Aygar G (2026). [PMID: 41047723](https://pubmed.ncbi.nlm.nih.gov/41047723/). *Pediatr Dermatol*. [Case Report / Case Series]
Xue S (2026). [PMID: 41869348](https://pubmed.ncbi.nlm.nih.gov/41869348/). *Front Immunol*. [Case Report / Case Series]
Kaplan MM (2026). [PMID: 41833237](https://pubmed.ncbi.nlm.nih.gov/41833237/). *Semin Arthritis Rheum*. [Epidemiology / Natural History]
van Heusden NS (2026). [PMID: 41812801](https://pubmed.ncbi.nlm.nih.gov/41812801/). *J Allergy Clin Immunol*. [Case Report / Case Series]
Lokken A (2026). [PMID: 40743460](https://pubmed.ncbi.nlm.nih.gov/40743460/). *J Neuropathol Exp Neurol*. [Case Report / Case Series]
Salvo Jiménez J (2026). [PMID: 41635243](https://pubmed.ncbi.nlm.nih.gov/41635243/). *Ocul Immunol Inflamm*. [Case Report / Case Series]
Koga T (2026). [PMID: 41620931](https://pubmed.ncbi.nlm.nih.gov/41620931/). *Expert Rev Clin Immunol*. [Review / Meta-Analysis]
Bourguiba R (2026). [PMID: 41933651](https://pubmed.ncbi.nlm.nih.gov/41933651/). *Clin Res Hepatol Gastroenterol*. [Review / Meta-Analysis]
Tunce E (2026). [PMID: 42172471](https://pubmed.ncbi.nlm.nih.gov/42172471/). *Turk J Pediatr*. [Case Report / Case Series]
AI-curated news mentioning mevalonate kinase deficiency
Updated Mar 9, 2026
Recent research highlights that pyrin inflammasome activation leads to an IL-18-driven IFNγ response in patients with mevalonate kinase deficiency. This discovery could inform future therapeutic strategies for managing this rare condition.