Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report
Abstract
Background: Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency characterized by recurrent infections and aberrant inflammation due to defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex.
Case presentation: We report a case of recurrent pneumonia and significantly elevated IgE levels in an adolescent. Metagenomic next-generation (mNGS) sequencing contributed to the identification of Burkholderia multivorans in bronchoalveolar lavage fluid and the initiation of appropriate treatment. Whole exome sequencing (WES) revealed two point mutations in the CYBA gene. The patient was cured by hematopoietic stem cell transplantation.
Conclusions: Application of mNGS contributed to the early identification of B. multivorans and the initiation of appropriate treatment. Timely screening by WES contributed to the diagnosis of the patient.
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