Abstract: Objective: To identify the pathogen in a patient with long-term chronic facial infection and whether the patient has innate immunodeficiency. Methods: The lesions of the patients were collected, and biopsy, fungal culture, bacterial culture, strain sequencing were performed. The sequencing results were compared in Genebank and the Westerdijk Fungal Biodiversity Institute website to identify the strains. Whole exome sequencing was performed on the patient to screen for pathogenic mutations, and the found pathogenic mutations were further verified by Sanger sequencing. Results: The patient was infected with Fusarium verticillioides, which was diagnosed as localized skin Fusarium verticillioides infection, and the lesion recovered after oral administration of itraconazole. The sequencing results showed that the patient carried a homozygous frameshift mutation of CARD9 gene (c.820 _ 821insG, p.D274Gfs * 61). Conclusion: This is the first report of a case of localized skin Fusarium moniliforme infection with CARD9 deficiency, which enriches the phenotype spectrum of CARD9 deficiency diseases and suggests that patients with long-term chronic infection should consider the possibility of genetic defects.

Key words: Fusarium verticillioides, sequencing, skin infection