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Host genetic factors in susceptibility to mycobacterial disease

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.

Publication metadata

Author(s): Duncan CJA, Hambleton S

Publication type: Review

Publication status: Published

Journal: Clinical Medicine

Year: 2014

Volume: 14

Issue: Suppl. 6

Pages: s17-s21

Print publication date: 15/12/2014

ISSN (print): 1470-2118

ISSN (electronic): 1473-4893


DOI: 10.7861/clinmedicine.14-6-s17

PubMed id: 25468913


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