De novo mutation of CYBB gene in a boy presenting as intra-abdominal infection of Burkholderia contaminans: a case report

Autor: Qianqian Zhao, Jing Yin, Jijun Ma, Xiaoxue Liu, Jiawen Wu, Chongwei Li
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
Druh dokumentu: article
ISSN: 1824-7288
DOI: 10.1186/s13052-022-01246-1
Popis: Abstract Background Chronic granulomatous disease (CGD) is an inborn error of immunity. It is characterized by recurrent bacterial or fungal infections, including infections by Burkholderia species. This is due to respiratory burst dysfunction of phagocytes. Currently, there is no report on Burkholderia contaminans (B. Contaminans) infection in children with CGD. Case presentation We present a previously healthy, 17-month-old Chinese boy infected with B. Contaminans in the intra-abdominal regions. Immunological screening, including assessment of cellular immunity and humoral immunity did not yield conclusive results. The level of nicotinamide adenine dinucleotide phosphatase (NADPH) activity was decreased and whole-exome sequencing identified a de novo mutation in the CYBB gene. Conclusions For specific pathogens such as B. Contaminans, immune assessment should be carried out even if there is no positive medical history or specificity in basic immunity screening.
Databáze: Directory of Open Access Journals
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