First Case of Patient With Two Homozygous Mutations in MYD88 and CARD9 Genes Presenting With Pyogenic Bacterial Infections, Elevated IgE, and Persistent EBV Viremia

We described for the first time a female patient with the simultaneous presence of two homozygous mutations in MYD88 and CARD9 genes presenting with pyogenic bacterial infections, elevated IgE, and persistent EBV viremia. In addition to defective TLR/IL1R-signaling, we described novel functional alt...

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Detalles Bibliográficos
Autores principales: Chiriaco, Maria, Di Matteo, Gigliola, Conti, Francesca, Petricone, Davide, De Luca, Maia, Di Cesare, Silvia, Cifaldi, Cristina, De Vito, Rita, Zoccolillo, Matteo, Serafinelli, Jessica, Poerio, Noemi, Fraziano, Maurizio, Brigida, Immacolata, Cardinale, Fabio, Rossi, Paolo, Aiuti, Alessandro, Cancrini, Caterina, Finocchi, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383679/
https://www.ncbi.nlm.nih.gov/pubmed/30837984
http://dx.doi.org/10.3389/fimmu.2019.00130

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