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

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

  • By

  • Menglan Zhou

  • Ying Zhao

  • Xin Sun

  • Wenjun Mou

  • Yaping Liu

  • Chuan Shi

  • Zongru Li

  • Yifei Cheng

  • Xinlun Tian

  • Junping Fan

  • Jinglan Wang

  • July 14, 2026

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  • 1

    Chronic granulomatous disease (CGD) is characterized by recurrent infections due to defects in the NADPH oxidase complex.

  • 2

    An adolescent with CGD developed recurrent pneumonia and elevated IgE levels, with Burkholderia multivorans identified via metagenomic next-generation sequencing.

  • 3

    Whole exome sequencing revealed two point mutations in the CYBA gene, confirming the genetic basis of the patient's condition.

  • 4

    The patient was successfully treated with hematopoietic stem cell transplantation after appropriate antibiotic therapy.

  • 5

    This case highlights the utility of mNGS and WES in diagnosing and managing complex immunodeficiencies like CGD.

Original Source(s)

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

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

  • July 14, 2026

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