Infectious Diseases - Hematology/Oncology/Transplant Clinical Program, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada.
Centre of Excellence for Genetic Research in Infection and Immunity, Research Institute - McGill University Health Centre, Montreal, Quebec, Canada.
Immunol Rev. 2024 Mar;322(1):28-52. doi: 10.1111/imr.13295. Epub 2023 Dec 8.
Fungi are opportunists: They particularly require a defect of immunity to cause severe or disseminated disease. While often secondary to an apparent iatrogenic cause, fungal diseases do occur in the absence of one, albeit infrequently. These rare cases may be due to an underlying genetic immunodeficiency that can present variably in age of onset, severity, or other infections, and in the absence of a family history of disease. They may also be due to anti-cytokine autoantibodies. This review provides a background on how human genetics or autoantibodies underlie cases of susceptibility to severe or disseminated fungal disease. Subsequently, the lessons learned from these inborn errors of immunity marked by fungal disease (IEI-FD) provide a framework to begin to mechanistically decipher fungal syndromes, potentially paving the way for precision therapy of the mycoses.
它们特别需要免疫缺陷才能导致严重或播散性疾病。虽然通常继发于明显的医源性原因，但在没有医源性原因的情况下也会发生真菌感染，尽管这种情况很少见。这些罕见的病例可能是由于潜在的遗传性免疫缺陷，其发病年龄、严重程度或其他感染的表现各不相同，且无疾病家族史。它们也可能是由于抗细胞因子自身抗体引起的。本综述提供了关于人类遗传学或自身抗体如何导致严重或播散性真菌感染易感性的背景信息。随后，由真菌感染（IEI-FD）引起的这些先天性免疫缺陷疾病的经验教训为从机制上阐明真菌感染综合征提供了一个框架，有可能为真菌病的精准治疗铺平道路。
