Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation

BACKGROUND: The homozygous K108E mutation of interferon regulatory factor 8 (IRF8) is reported to cause dendritic cell (DC) and monocyte deficiency. However, more widespread immune dysfunction is predicted from the multiple roles ascribed to IRF8 in immune cell development and function. OBJECTIVE: W...

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Detalles Bibliográficos
Autores principales: Bigley, Venetia, Maisuria, Sheetal, Cytlak, Urszula, Jardine, Laura, Care, Matthew A., Green, Kile, Gunawan, Merry, Milne, Paul, Dickinson, Rachel, Wiscombe, Sarah, Parry, David, Doffinger, Rainer, Laurence, Arian, Fonseca, Claudia, Stoevesandt, Oda, Gennery, Andrew, Cant, Andrew, Tooze, Reuben, Simpson, A. John, Hambleton, Sophie, Savic, Sinisa, Doody, Gina, Collin, Matthew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986711/
https://www.ncbi.nlm.nih.gov/pubmed/29128673
http://dx.doi.org/10.1016/j.jaci.2017.08.044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986711/
https://www.ncbi.nlm.nih.gov/pubmed/29128673
http://dx.doi.org/10.1016/j.jaci.2017.08.044

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