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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Detaylı Bibliyografya
Yayımlandı:Front Immunol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2019
Konular:
Immunology
Online Erişim: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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