Date: 11/05/2024

This study provides functional insights into the consequences of DDX41 alleles and aberrant periostin expression in our patient’s phenotype. The observed reductions in DDX41 stability, reduced IFN-I response, and transcriptome-wide RNA splicing changes highlight the intricate molecular mechanisms underlying this genetic disorder. Further research is needed to elucidate the precise details of these regulatory processes and their impact on the observed clinical features. Read more here https://link.springer.com/article/10.1007/s00439-024-02708-8