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Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report

BackgroundChronic 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 presentationWe report a case of recurrent pneumoni...

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Principais autores: Menglan Zhou, Ying Zhao, Xin Sun, Wenjun Mou, Yaping Liu, Chuan Shi, Zongru Li, Yifei Cheng, Xinlun Tian, Junping Fan, Jinglan Wang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2026-07-01
coleção:Frontiers in Pediatrics
Assuntos:
Burkholderia multivorans
chronic granulomatous disease
CYBA gene
pneumonia
whole exome sequencing
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2026.1780075/full
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