PT  - JOURNAL ARTICLE
AU  - Christopher JA Duncan
AU  - Sophie Hambleton
TI  - Host genetic factors in susceptibility to mycobacterial disease
AID  - 10.7861/clinmedicine.14-6-s17
DP  - 2014 Dec 01
TA  - Clinical Medicine
PG  - s17--s21
VI  - 14
IP  - Suppl 6
4099  - http://www.rcpjournals.org/content/14/Suppl_6/s17.short
4100  - http://www.rcpjournals.org/content/14/Suppl_6/s17.full
SO  - Clin Med2014 Dec 01; 14
AB  - 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.