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Lookup NU author(s): Dr Christopher Duncan,
Professor Sophie Hambleton
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Primary immunodeficiencies (PID) are a group of rare inherited disorders that manifest as heightened susceptibility to infection, autoimmunity and/or malignancy. By exploring their genetic and cellular aetiology, we can learn much about the basis of pathogen-specific immunity in humans. This is exemplified by mycobacterial susceptibility, which occurs across several types of PID, either as an isolated problem or as part of a broader pattern of susceptibility to infection. These experiments of nature have contributed to our understanding of the central role of T cells in activating infected macrophages to eliminate phagosomal mycobacteria through mutually activating, cytokine-dependent interactions. In recent years, the discovery of novel forms of PID has emphasised the important role of dendritic cells and monocytes in mycobacterial defence in humans. Here, we provide a brief overview of these new disorders alongside other genetic causes of susceptibility to mycobacterial disease.
Author(s): Duncan CJA, Hambleton S
Publication type: Review
Publication status: Published
Journal: Clinical Medicine
Issue: Suppl. 6
Print publication date: 15/12/2014
ISSN (print): 1470-2118
ISSN (electronic): 1473-4893
PubMed id: 25468913