Mevalonate kinase deficiency

Posted by & filed under Part 20: IMMUNE AND DEFENSE SYSTEMS.

Immune and inflammatory reactions are increasingly being linked to inborn errors of metabolism. It is well known that mevalonate kinase deficiency causes an auto-inflammatory syndrome. It has now been shown that the NALP3 inflammasome, which acts as an intracellular sensor for the innate immunity, is the missing link between a lack of geranylgeranyl pyrophosphate (downstream of mevalonate kinase), and the activation of caspase-1 leading to increases in IL-1β (Pontillo et al., 2010, Eur J Hum Genet 18:844-7).

Posted by Philippe Campeau, MD

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