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RNA-Seq from PMM2-CDG Patients and Healthy Controls

Besides the predominant neurological involvement of PMM2-CDG patients, around 20% of patient mortality has been linked to severe infections. However, the immunological dysfunction in PMM2-CDG is not well understood. In this study, we aimed to address this gap and study the molecular mechanisms affected behind immunological issues in PMM2-CDG. Primary skin fibroblasts from three PMM2-CDG patients and three healthy controls were stimulated or not with TNF-alpha and their gene expression was assessed by RNA sequencing. The response to TNF-alpha was characterized based on the differential expressed genes and functional enrichment and and compared between PMM2-CDG and healthy individuais. Gene expression alterations and functional enrichment were further validated by several experimental assays by ELISA, Flow Cytometry and Western Blotting.