Disseminated tuberculosis associated with deficient interleukin-23/tyrosine kinase 2 signalling

BMJ Case Rep. 2022 Aug 23;15(8):e250479. doi: 10.1136/bcr-2022-250479.

Abstract

Tuberculosis (TB) remains a significant cause of morbidity and mortality globally. The disseminated form of the disease has a worse prognosis and is commonly associated with primary and acquired immunodeficiency states such as HIV/AIDS, post-organ transplant and malnutrition. However, disseminated TB in the context of isolated impaired cellular responses to interleukin (IL)-23 due to tyrosine kinase 2 (TYK2) deficiency has been rarely reported. We highlight the case of a young woman with pulmonary and central nervous system TB associated with previously undiagnosed IL-23/TYK2 signalling defects causing impaired response to IL-23. A significant clinical improvement was observed after introduction of adjunctive interferon-gamma therapy to her anti-tuberculous medications. This case emphasises the need to broadly evaluate for potential immune deficiencies in poorly responding patients with fully sensitive TB as well as the potential benefits of interferon-gamma therapy in patients with certain immune defects.

Keywords: Immunological products and vaccines; Immunology; Tuberculosis.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Interferon-gamma / therapeutic use
  • Interleukin-23
  • Mycobacterium tuberculosis*
  • TYK2 Kinase
  • Tuberculosis, Central Nervous System*
  • Tuberculosis, Miliary*

Substances

  • Interleukin-23
  • Interferon-gamma
  • TYK2 Kinase