The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

doi:10.1002/art.39763

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Article

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Nov 2016

Ter Haar Nienke M, Jeyaratnam Jerold, Lachmann Helen J, Simon Anna, Brogan Paul A, Doglio Matteo, Cattalini Marco, Anton Jordi, Modesto Consuelo, Quartier Pierre, Hoppenreijs Esther, Martino Silvana, Insalaco Antonella, Cantarini Luca, Lepore Loredana, Alessio Maria, Calvo Penades Inmaculada, Boros Christina, Consolini Rita, Rigante Donato, Russo Ricardo, Pachlopnik Schmid Jana, Lane Thirusha, Martini Alberto, Ruperto Nicolino, Frenkel Joost, Gattorno Marco

Abstract excerpt

OBJECTIVE: Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients. METHODS: All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international,...

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PMID: 27213830
DOI: 10.1002/art.39763

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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