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

Authors

Menglan Zhou, Ying Zhao, Xin Sun, Wenjun Mou, Yaping Liu, Chuan Shi, Zongru Li, Yifei Cheng, Xinlun Tian, Junping Fan, Jinglan Wang

Published in

Frontiers in pediatrics. Volume 14. Pages 1780075. Epub Jul 14, 2026.

Abstract

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.
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.
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.

PMID:
42523956
Bibliographic data and abstract were imported from PubMed on 16 Sep 2026.

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