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Insights from Patients with Dendritic Cell Immunodeficiency

Lookup NU author(s): Dr Venetia BigleyORCiD, Professor Matthew CollinORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


Dendritic Cells (DCs), derived from haematopoietic stem cells, are critical to the dynamic and balanced functioning of the intact immune system and are of great interest as vehicles of immunotherapy. Genetically modiTed mouse models have proved powerful tools to map DC development and function in vivo but human studies have previously relied heavily on in vitro systems. Human dendritic cell immunodeTciency, resulting from single gene mutations, offers new opportunities to dissect the role of human DCs in vivo, determine the genetic requirements for their development and map their haematopoietic differentiation pathways. This review will summarise the clinical phenotypes of mutations in GATA2, IRF8 and IKZF1 genes which result in global or subset speciTc dendritic cell deTciencies, discuss the functional consequences of these cytopenias and how these syndromes have informed our knowledge of DC differentiation and human haematopoiesis.

Publication metadata

Author(s): Bigley V, Collin M

Publication type: Review

Publication status: Published

Journal: Molecular Immunology

Year: 2020

Volume: 122

Pages: 116-123

Print publication date: 01/06/2020

Online publication date: 25/04/2020

Acceptance date: 16/04/2020

ISSN (print): 0161-5890

ISSN (electronic): 1872-9142


DOI: 10.1016/j.molimm.2020.04.019