• Christopher J A Duncan and Sophie Hambleton.
• Institute of Cellular Medicine, Newcastle University, Newcastle-upon-Tyne, UK, and Great North Children's Hospital, Newcastle-upon-Tyne, UK.
• Clin Med (Lond). 2014 Dec 1; 14 Suppl 6: s17s21s17-21.

AbstractPrimary 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.© 2014 Royal College of Physicians.

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