Mycobacterial Infection: TB and NTM—What Are the Roles of Genetic Factors in the Pathogenesis of Mycobacterial Infection?

  • Kazuko YamamotoEmail author
  • Hiroshi Mukae
Part of the Respiratory Disease Series: Diagnostic Tools and Disease Managements book series (RDSDTDM)


Human lung infections due to Mycobacterium tuberculosis have had a major impact on society. Nontuberculous mycobacterial infections have recently increased especially in developed countries and now being more prevalent than tuberculosis. Severe mycobacterial disease is mostly confined to patients who are immunocompromised either by acquired or inherited causes. Genetic aberrations in pathways critical for host defense against mycobacteria—which involve functional interleukin 12/interferon γ and the integrity of macrophages that modulate T lymphocytes—can lead to disseminated and fatal mycobacterial disease ranging from early-onset systemic infection to adult-onset localized disease, with clinical outcome dependent on the extent to which host genes are depleted and the pattern of inheritance. In addition, polymorphisms in genes encoding receptors and cytokines involved in innate immunity and host defense against mycobacteria are linked to mycobacterial disease susceptibility. The elucidation of genetic factors underlying mycobacterial disease can reveal the contribution of specific genes to immunological processes essential for the pathogenesis and control of mycobacterial infections in humans.


Mycobacteria Tuberculosis Gene MSMD Polymorphism 


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© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.Department of Respiratory MedicineNagasaki University HospitalNagasakiJapan

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