Encontrados 3 documentos, a visualizar página 1 de 1
In silico modeling guides identification of novel JAK1 variants associated with...
Jeanpierre, Marie; Debeaupuis, Orianne; Brunaud, Camille; Yancoski, Judith; Riller, Quentin; Hadjadj, Jerome; Stolzenberg, Marie ClaudeCharacterization of primary immune dysregulations and deficiency disorders caused by hyperactivating variants of the JAK/STAT pathway highlighted its crucial role in immune cell development and response. To systematically evaluate pathogenic JAK1 variants, we developed a structure-based predictive framework adapting AlphaFold2, modeling both the active and inactive conformations of JAK1. Dual-state modeling of ...
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neu...
Bastard, Paul; Vazquez, Sara E.; Liu, Jamin; Laurie, Matthew T.; Wang, Chung Yu; Gervais, Adrian; Le Voyer, Tom; Bizien, Lucy; Zamecnik, ColinLife-threatening "breakthrough" cases of critical COVID-19 are attributed to poor or waning antibody (Ab) response to SARS-CoV-2 vaccines in individuals already at risk. Preexisting auto-Abs neutralizing type I IFNs underlie at least 15% of critical COVID-19 pneumonia cases in unvaccinated individuals; their contribution to hypoxemic breakthrough cases in vaccinated people is unknown. We studied a cohort of 48 ...
Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compoun...
Giardino, Giuliana; Sharapova, Svetlana O.; Ciznar, Peter; Dhalla, Fatima; Maragliano, Luca; Radha Rama Devi, Akella; Islamoglu, CandanHuman nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for IEIs and high-throughput sequencing has led to the identification of novel and atypical cases. Moreover, immunological alterations have been recently described in patients ca...