Simona Di Gennaro

The Broad Clinical Heterogeneity of TRNT1-Related Autoinflammatory Syndrome: A Comprehensive Review

Mutations in the tRNA Nucleotidyl Transferase 1 (TRNT1) gene have been associated with a systemic autoinflammatory disease (SAID) that presents with a wide clinical spectrum, ranging from severe and fatal forms to milder disorders. We conducted a literature review to provide a co...