Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β

Martin, Céleste;Scheers, Isabelle;Triaille, Clément;Boulanger, Cécile
(2024) Rheumatology (Print) — Vol. 63, n° 9, p. e270-e272 (2024)

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Abstract
(en) Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease caused by biallelic mutations in the MVK gene. The phenotypic spectrum is variable and ranges from periodic fever syndrome (PFS) to mevalonic aciduria (MA), with severity depending partly on residual enzymatic activity. [...]
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Martin, C., Scheers, I., Triaille, C., & Boulanger, C. (2024). Successful treatment of refractory mevalonate kinase deficiency with combination therapy targeting TNFα and IL1β. Rheumatology (Print), 63(9), e270-e272. https://doi.org/10.1093/rheumatology/keae200 (Original work published 2024)