Mariam Mansouri, Ghyzlane El Haddoumi, Houda Bendani, Nasma Boumajdi, Mohammed Hakmi, Hanane Abbou, El Mehdi Bouricha, Boutaina Elgharbaoui, Souad Kartti, Rachid El Jaoudi, Lahcen Belyamani, Ilham Kandoussi, Azeddine Ibrahimi, Naima El Hafidi
Autosomal dominant hyper-IgE syndrome (AD-HIES) is linked to dominant negative mutations of the STAT3 protein whose molecular basis for dysfunction is unclear and presenting with a variety of clinical manifestations with only supportive treatment. To establish the relationship between the impact of STAT3 mutations in different domains and the severity of the clinical manifestations, 105 STAT3 mutations were analyzed for their impact on protein stability, flexibility, function, and binding affinity using in Silico approaches...
2023: Evolutionary Bioinformatics Online