Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation

We have previously reported on a unique patient in whom homozygosity for a mutation at IRF8 (IRF8(K108E)) causes a severe immunodeficiency. Laboratory evaluation revealed a highly unusual myeloid compartment, remarkable for the complete absence of CD14(+) and CD16(+) monocytes, absence of CD11c(+) c...

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Détails bibliographiques
Auteurs principaux: Salem, Sandra, Langlais, David, Lefebvre, François, Bourque, Guillaume, Bigley, Venetia, Haniffa, Muzz, Casanova, Jean-Laurent, Burk, David, Berghuis, Albert, Butler, Karina M., Leahy, Timothy Ronan, Hambleton, Sophie, Gros, Philippe
Format: Artigo
Langue:Inglês
Publié: American Society of Hematology 2014
Sujets:
Immunobiology
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4168344/
https://ncbi.nlm.nih.gov/pubmed/25122610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-04-570879
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