Respiratory Medicine, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK
Respiratory Medicine, Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK.
BMJ Case Rep. 2022 Aug 23;15(8):e250479. doi: 10.1136/bcr-2022-250479.
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.
结核病(TB)仍然是全球发病率和死亡率的重要原因。该病的播散形式预后更差,通常与原发性和获得性免疫缺陷状态有关,如 HIV/AIDS、器官移植后和营养不良。然而,由于酪氨酸激酶 2(TYK2)缺陷导致对白介素(IL)-23 的细胞反应受损而导致的播散性结核病在孤立性情况下很少有报道。我们强调了一名年轻女性的病例,她患有肺和中枢神经系统结核病,同时存在先前未诊断出的 IL-23/TYK2 信号缺陷,导致对白介素(IL)-23 的反应受损。在她的抗结核药物中加入辅助干扰素-γ治疗后,观察到显著的临床改善。该病例强调了在完全敏感的结核病患者中,需要广泛评估潜在的免疫缺陷,以及干扰素-γ治疗对某些免疫缺陷患者的潜在益处。