LANE T.

Background: TNF receptor–associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. Objective: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the...

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...