Journal
BMC INFECTIOUS DISEASES
Volume 22, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s12879-021-06968-x
Keywords
Nocardia farcinica; X-linked chronic granulomatous disease; Metagenomic next-generation sequencing; Whole-exome sequencing; Early diagnosis; Case report
Categories
Funding
- Chinese National Science and Technology Major Project [2018ZX10305410]
- Joint Construction Project of Henan Province Medical Science and Technology Program [LHGJ20200340]
- Henan Province Science and Technology Research Project [212102310442]
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This case report describes the identification of overlapping infection of Nocardia farcinica and Aspergillus fumigatus in a Chinese child with X-linked chronic granulomatous disease (X-CGD) using metagenomic next-generation sequencing. Metagenomic next-generation sequencing is recommended as an important approach for microbial identification when traditional detection methods are unable to diagnose infectious pathogens. Patients with X-CGD have a poor prognosis, and early diagnosis and intervention may reduce mortality.
Background Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency syndrome, manifested as recurrent infections and inflammatory complications. Although prophylactic treatment with antibiotics and antifungals improved the outcome of CGD patients, infections remain the major cause of mortality. Case presentation A boy aged 3 years and 8 months was admitted to hospital complaining of lip swelling with fever for half a month and neck abscess for 11 days. After a thorough examination, severe pneumonia, respiratory failure, oral and maxillofacial space infection, and perianal abscess were confirmed. However, his condition didn't improve after initial comprehensive therapy. Subsequently, overlapping infections of Nocardia farcinica and Aspergillus fumigatus were identified by metagenomic next-generation sequencing. He was treated with imipenem, linezolid, and voriconazole intravenously, plus taking oral compound sulfamethoxazole. Later, his condition improved. Through whole-exome sequencing, the child was ultimately diagnosed as X-linked chronic granulomatous disease (X-CGD) caused by CYBB gene mutation. Allogeneic hematopoietic stem cell transplantation was the potential sanative approach but there were no available human leukocyte antigen compatible donors for the child. The family requested to transfer to a superior hospital for further treatment. Two months later, we followed up the child's family. Unfortunately, the child had expired due to severe infection. Conclusion To our knowledge, this is the first case of overlapping infection of Nocardia farcinica and Aspergillus fumigatus identified by metagenomic next-generation sequencing in a child with X-CGD from China. For infectious pathogens that are hard to diagnosis by traditional detection methods, metagenomic next-generation sequencing is recommended as an adminicle or indispensable approach for microbial identification. Patients with X-CGD have poor prognosis, early diagnosis and intervention of X-CGD may reduce the mortality.
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