Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. [electronic resource]
Producer: 20150930Description: 1894-904 p. digitalISSN:- 1528-0020
- Amino Acid Substitution
- Antigen Presentation -- genetics
- Clonal Anergy -- genetics
- Cord Blood Stem Cell Transplantation
- Dendritic Cells -- immunology
- Female
- HEK293 Cells
- Homozygote
- Humans
- Immunologic Deficiency Syndromes -- genetics
- Infant
- Interferon Regulatory Factors -- deficiency
- Lymphohistiocytosis, Hemophagocytic -- genetics
- Mutant Proteins -- genetics
- Mutation, Missense
- Protein Processing, Post-Translational
- Protein Stability
- RNA -- genetics
- T-Lymphocyte Subsets -- immunology
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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