Galgiani John N, Hsu Amy P, Powell Daniel A, Vyas Jatin M, Holland Steven M
Valley Fever Center for Excellence, College of Medicine-Tucson, University of Arizona, Tucson, AZ 85721, USA.
Department of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ 85721, USA.
J Fungi (Basel). 2023 May 11;9(5):554. doi: 10.3390/jof9050554.
The endemic fungal infection, coccidioidomycosis, occurs after inhalation of one or very few spp. spores. Infections produce diverse clinical manifestations, ranging from insignificant to extremely destructive, even fatal. Approaches to understanding this range of consequences have traditionally categorized patients into a small number of groups (asymptomatic, uncomplicated self-limited, fibro-cavitary, and extra-thoracic disseminated) and then looked for immunologic differences among them. Recently, variants within genes of innate pathways have been found to account, in part, for infections that result in disseminated disease. This discovery raises the very attractive theory that, in patients without severe immunosuppression, much of the disease spectrum can be accounted for by various combinations of such deleterious variants in innate pathways. In this review, we summarize what is known about genetic determinants that are responsible for the severity of coccidioidal infections and how complex innate genetic differences among different people might account for the spectrum of disease observed clinically.
地方性真菌感染球孢子菌病，是在吸入一个或极少数该菌的孢子后发生的。感染会产生多种临床表现，从无明显症状到极具破坏性甚至致命。传统上，理解这一系列后果的方法是将患者分为少数几组（无症状、无并发症的自限性、纤维空洞型和胸外播散型），然后寻找它们之间的免疫差异。最近发现，固有免疫途径基因中的变异部分解释了导致播散性疾病的感染情况。这一发现提出了一个非常有吸引力的理论，即在没有严重免疫抑制的患者中，疾病谱的很大一部分可以由固有免疫途径中此类有害变异的各种组合来解释。在这篇综述中，我们总结了已知的关于决定球孢子菌感染严重程度的遗传因素，以及不同人之间复杂的固有遗传差异如何解释临床上观察到的疾病谱。
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