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Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities

Genes & Immunity volume 20, pages 447–454 (2019)Cite this article

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Abstract

While individual primary immunodeficiency diseases (PIDs) are rare, collectively they represent a significant burden of disease. Recent estimates show that about one million people in Africa suffer from a PID. However, data from African PID registries reflect only a small percentage of the estimated prevalence. This disparity is partly due to the lack of PID awareness and the masking of PIDs by the endemic pathogens. Over three million tuberculosis (TB) cases were reported in Africa in 2016, with many of these from southern Africa. Despite concerted efforts to address this high burden of disease, the underlying genetic correlates of susceptibility to TB remain poorly understood. High penetrance mutations in immune system genes can cause PIDs that selectively predispose individuals to TB and other mycobacterial diseases. Additionally, the identification of individuals at a heightened risk of developing TB or of presenting with severe or disseminated TB due to their genetic ancestry is crucial to promote a positive treatment outcome. The screening for and identification of PID mutations in TB-endemic regions by next-generation sequencing (NGS) represents a promising approach to improve the understanding of what constitutes an effective immune response to TB, as well as the range of associated PIDs and phenotypes.

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Author contributions

BG, CU, MM, CK and NvD wrote the manuscript. AvC, RG, MU, EH and ME reviewed the manuscript.

Funding

This research was funded (partially or fully) by the South African government though the South African Medical Research Council.

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Author notes

  1. These authors contributed equally: Brigitte Glanzmann, Caitlin Uren, Nikola de Villiers, Marlo Möller, Craig J. Kinnear.

Authors and Affiliations

  1. DST/NRF Centre of Excellence for Biomedical Tuberculosis Research; South African Medical Research Council Centre for Tuberculosis Research; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa

    Brigitte Glanzmann, Caitlin Uren, Nikola de Villiers, Michael Urban, Eileen G. Hoal, Marlo Möller & Craig J. Kinnear

  2. Immunology Unit, Division of Medical Microbiology, National Health Laboratory Service and Faculty of Medicine and Health Sciences, Tygerberg Hospital, Stellenbosch University, Cape Town, South Africa

    Ansia van Coller, Richard H. Glashoff & Monika M. Esser

Authors
  1. Brigitte Glanzmann
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  2. Caitlin Uren
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  3. Nikola de Villiers
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  4. Ansia van Coller
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  7. Eileen G. Hoal
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  9. Marlo Möller
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  10. Craig J. Kinnear
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Corresponding author

Correspondence to Craig J. Kinnear.

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Glanzmann, B., Uren, C., de Villiers, N. et al. Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities. Genes Immun 20, 447–454 (2019). https://doi.org/10.1038/s41435-018-0041-0

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  • DOI: https://doi.org/10.1038/s41435-018-0041-0

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