Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review.

Abstract excerpt

Mutations in the gene encoding tRNA nucleotidyltransferase 1 (TRNT1) are associated with heterogeneous phenotypes and multisystem involvement of variable severity and progression. Immunodeficiency and inflammation are recurrent-associated features. The use of cytokine inhibitors in suppressing the inflammatory phenotype has been recently reported, with a 3-year follow-up for patients treated with Etanercept. We...

Topics

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• Etanercept
• Immunologic Deficiency Syndromes
• Mutation
• Nucleotidyltransferases
• Phenotype