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

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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Bibliographic Details
Main Authors: Maria Chiriaco, Gigliola Di Matteo, Francesca Conti, Davide Petricone, Maia De Luca, Silvia Di Cesare, Cristina Cifaldi, Rita De Vito, Matteo Zoccolillo, Jessica Serafinelli, Noemi Poerio, Maurizio Fraziano, Immacolata Brigida, Fabio Cardinale, Paolo Rossi, Alessandro Aiuti, Caterina Cancrini, Andrea Finocchi
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-02-01
Series:Frontiers in Immunology
Subjects:
MYD88
CARD9
NGS
primary immune deficiency (PID)
pyogenic infections
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.00130/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2019.00130/full

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