Faculdade de Ciências da Saúde-FCS, Federal University of Grande Dourados, Dourados, Brazil.
School of Medicine, Federal University of Mato Grosso do Sul, Campo Grande, Brazil.
Mycoses. 2024 Mar;67(3):e13712. doi: 10.1111/myc.13712.
Autosomal recessive deficiency in the caspase recruitment domain-containing protein 9 (CARD9) is a congenital immunological condition that leads to susceptibility to mucocutaneous and invasive fungal infections. There is growing incidence of fungal infections in patients with CARD9 deficiency, a phenomenon that is increasingly recognised.
This study aimed to assess the frequency, geographic distribution and nature of mutations in patients with CARD9 deficiency, based on published papers in the literature until March 2023.
We swiftly conducted a study to pinpoint every documented instance of fungal infections arising from CARD9 deficiency. We selected case reports from the databases of PubMed, Embase, Scopus and Google Scholar spanning the period from October 2009 to March 2023.
We analysed 90 cases of fungal infections and identified 32 mutations in the CARD9 gene. Notably, the homozygous (HMZ) p.Q295X (c.883C > T) mutation was associated with an increased risk of candidiasis. In contrast, the HMZ p.Q289X (c.865C > T) mutation is linked to a higher risk of dermatophytosis. We observed differences in the geographical distribution of these mutations. The primary mutations found in African patients differ from those in Asian patients. Specifically, Asian patients exhibit a broader spectrum of CARD9 mutations than African patients.
The diversity of mutations observed in the 90 cases revealed 32 distinct variations, emphasising the unique genetic alterations in the CARD9 gene associated with specific geographical areas and the corresponding prevalence of fungal infections.
常染色体隐性遗传的半胱氨酸天冬氨酸蛋白酶募集结构域蛋白 9（CARD9）缺陷是一种先天性免疫缺陷病，导致患者易发生黏膜和侵袭性真菌感染。越来越多的 CARD9 缺陷患者出现真菌感染，这一现象日益受到关注。
本研究旨在评估截至 2023 年 3 月文献中报道的 CARD9 缺陷患者的突变频率、地理分布和性质。
我们迅速进行了一项研究，以确定文献中每一例由 CARD9 缺陷引起的真菌感染病例。我们从 PubMed、Embase、Scopus 和 Google Scholar 数据库中选择了 2009 年 10 月至 2023 年 3 月期间发表的病例报告。
我们分析了 90 例真菌感染病例，发现了 32 种 CARD9 基因突变。值得注意的是，纯合子（HMZ）p.Q295X（c.883C>T）突变与念珠菌病风险增加相关。相比之下，HMZ p.Q289X（c.865C>T）突变与皮肤癣菌病风险增加相关。我们观察到这些突变在地理分布上存在差异。在非洲患者中发现的主要突变与在亚洲患者中发现的不同。具体而言，亚洲患者的 CARD9 基因突变谱比非洲患者更广泛。
90 例病例中观察到的突变多样性揭示了 32 种不同的变异，强调了 CARD9 基因中与特定地理区域相关的独特遗传改变以及相应的真菌感染流行情况。
