Abstract：
BACKGROUND: 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.
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：含有caspase募集结构域的蛋白9（CARD9）的常染色体隐性遗传缺陷是一种先天性免疫疾病，可导致皮肤粘膜和侵袭性真菌感染的易感性。在CARD9缺乏症患者中，真菌感染的发生率越来越高，这是一个越来越被认可的现象。
目的：本研究旨在评估频率，CARD9缺乏症患者的地理分布和突变性质，基于直到2023年3月的文献中已发表的论文。
方法：我们迅速进行了一项研究，以查明每一个由CARD9缺乏症引起的真菌感染。我们从PubMed的数据库中选择病例报告，Embase,Scopus和GoogleScholar跨越2009年10月至2023年3月。
结果：我们分析了90例真菌感染病例，发现了32个CARD9基因突变。值得注意的是,纯合(HMZ)p.Q295X(c.883C>T)突变与念珠菌病风险增加相关.相比之下,HMZp.Q289X（c.865C>T）突变与皮肤癣菌病的高风险相关。我们观察到这些突变的地理分布差异。在非洲患者中发现的主要突变与亚洲患者不同。具体来说,亚洲患者比非洲患者表现出更广泛的CARD9突变谱。
结论：在90例中观察到的突变的多样性揭示了32个不同的变异，强调与特定地理区域相关的CARD9基因的独特遗传改变以及相应的真菌感染患病率。
目的：本研究旨在评估频率，CARD9缺乏症患者的地理分布和突变性质，基于直到2023年3月的文献中已发表的论文。
方法：我们迅速进行了一项研究，以查明每一个由CARD9缺乏症引起的真菌感染。我们从PubMed的数据库中选择病例报告，Embase,Scopus和GoogleScholar跨越2009年10月至2023年3月。
结果：我们分析了90例真菌感染病例，发现了32个CARD9基因突变。值得注意的是,纯合(HMZ)p.Q295X(c.883C>T)突变与念珠菌病风险增加相关.相比之下,HMZp.Q289X（c.865C>T）突变与皮肤癣菌病的高风险相关。我们观察到这些突变的地理分布差异。在非洲患者中发现的主要突变与亚洲患者不同。具体来说,亚洲患者比非洲患者表现出更广泛的CARD9突变谱。
结论：在90例中观察到的突变的多样性揭示了32个不同的变异，强调与特定地理区域相关的CARD9基因的独特遗传改变以及相应的真菌感染患病率。
