Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation-Reference-Cited by-同舟云学术

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation

Published:2014-09-18 Issue:12 Volume:124 Page:1894-1904
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Salem Sandra¹²,Langlais David¹²,Lefebvre François³,Bourque Guillaume³,Bigley Venetia⁴,Haniffa Muzz⁴,Casanova Jean-Laurent⁵⁶⁷,Burk David¹,Berghuis Albert¹,Butler Karina M.⁸,Leahy Timothy Ronan⁸,Hambleton Sophie⁴,Gros Philippe¹²

Affiliation:

1. Department of Biochemistry and

2. Complex Traits Group, McGill University, Montreal, QC, Canada;

3. McGill University and Génome Québec Innovation Center, Montreal, QC, Canada;

4. Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;

5. Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980 and University Paris Descartes, Necker Medical School, Paris, France;

6. St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY;

7. Howard Hughes Medical Institute, New York, NY and

8. Our Lady’s Children’s Hospital, Dublin, Ireland

Abstract

Key Points IRF8K108E mutation causes dendritic cell depletion, defective antigen presentation, and anergic T cells. IRF8K108E mutant protein is functionally null and shows defective nuclear targeting and increased proteasomal degradation.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/124/12/1894/1379561/1894.pdf

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4. IRF8 mutations and human dendritic-cell immunodeficiency.;Hambleton;N Engl J Med,2011

5. IFN regulatory factor-4 and -8 govern dendritic cell subset development and their functional diversity.;Tamura;J Immunol,2005

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