Background

Paracoccidioidomycosis is an endemic mycosis caused by members of the Paracoccidioides genus. Brazil remains the focus area and, to a lesser extent, the disease has been reported from Argentina, Colombia and Venezuela.

Aims

A Venezuelan Paracoccidioides brasiliensis strain, isolated from a patient diagnosed with chronic multifocal paracoccidioidomycosis, was subjected to whole genome sequencing to provide more insight about Paracoccidioides outside the endemic focus area.

Methods

P. brasiliensis strain CBS 118890 was whole genome sequenced using nanopore; library preparation with the ‘native barcoding genomic DNA kit’ was followed by sequencing on Flongle and MinION flowcells. Batches of strain CBS 118890 were re-identified by sequencing the internal transcribed spacer (ITS) region, and final identification was made based on phylogenetic analysis.

Results

Surprisingly, the Venezuelan P. brasiliensis strain CBS 118890 turned out to be a Nannizziopsis species. The batches of this strain were ITS sequenced followed by phylogenetic analysis and resulted in the final identification of Nannizziopsis arthrosporioides.

Conclusions

Nannizziopsis infections are commonly seen in a wide variety of reptiles, but are particularly rare in human infections. This case underlines the need for molecular characterization of cases that clinically mimic paracoccidioidomycosis but that are serologically negative for Paracoccidioides.

中文翻译：

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一个惊人的发现：舌头病变被误诊为副球孢子菌病的奇怪案例

背景

副球孢子菌病是由副球孢子菌属成员引起的地方性真菌病。巴西仍然是重点区域，在较小程度上，阿根廷、哥伦比亚和委内瑞拉报告了该病。

宗旨

从诊断为慢性多灶性副球孢子菌病的患者中分离出的委内瑞拉副球孢子菌菌株进行了全基因组测序，以提供关于流行病灶区域以外的副球孢子菌的更多信息。

方法

使用纳米孔对P. brasiliensis菌株 CBS 118890 进行了全基因组测序；使用“原生条形码基因组 DNA 试剂盒”制备文库，然后在 Flongle 和 MinION 流通池上进行测序。通过对内部转录间隔区 (ITS) 区域进行测序，对菌株 CBS 118890 的批次进行了重新鉴定，并根据系统发育分析进行了最终鉴定。

结果

令人惊讶的是，委内瑞拉P. brasiliensis菌株 CBS 118890 竟然是一个Nannizziopsis物种。对该菌株的批次进行 ITS 测序，然后进行系统发育分析，最终鉴定出Nannizziopsis arthrosporioides。

结论

Nannizziopsis感染常见于多种爬行动物，但在人类感染中尤为罕见。该病例强调了对临床上类似于副球孢子菌病但副球孢子菌血清学阴性的病例进行分子鉴定的必要性。