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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Veröffentlicht in:Front Immunol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2019
Schlagworte:
Immunology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6383679/
https://ncbi.nlm.nih.gov/pubmed/30837984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2019.00130
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