Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report - Report - 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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Successful Treatment of Chronic Granulomatous Disease in an Adolescent

Overview

This case study reports the treatment of an adolescent with chronic granulomatous disease (CGD) caused by a unique compound heterozygote mutation. Hematopoietic stem cell transplantation (HSCT) was performed.

Background

Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency that leads to recurrent infections due to defects in the NADPH oxidase complex. Patients with CGD are particularly susceptible to severe bacterial and fungal infections.

Data Highlights

No numerical data or trial data provided in the source material.

Key Findings

  • The patient had recurrent pneumonia and elevated IgE levels.
  • Metagenomic next-generation sequencing identified Burkholderia multivorans in bronchoalveolar lavage fluid.
  • Whole exome sequencing revealed two point mutations in the CYBA gene.
  • The patient underwent hematopoietic stem cell transplantation.
  • CGD can present with severe infections, including those caused by B. multivorans.

Clinical Implications

Advanced genetic testing such as whole exome sequencing can aid in the diagnosis of CGD and its mutations.

Conclusion

This case highlights the treatment of an adolescent with CGD and the use of HSCT.

Related Resources & Content

  1. Bone Marrow Transplantation, 2021 -- Rescue HLA-haploidentical hematopoietic stem cell transplantation utilizing post-transplant cyclophosphamide for addressing graft failure in non-malignant conditions
  2. Open Forum Infectious Diseases, 2021 -- Outpatient Dalbavancin Therapy Guided by Therapeutic Drug Monitoring for Inoperable Abscesses in Chronic Granulomatous Disease: A Case Study Over 11 Months
  3. Bone Marrow Transplantation, 2024 -- Clinical Outcomes of Hematopoietic Cell Transplantation in Patients with Chronic Granulomatous Disease and Mold Infections
  4. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf
  5. Bone Marrow Transplantation — Initial Outcomes of Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome Utilizing HLA-Matched Sibling Donors Identified via Preimplantation HLA Typing
  6. How I Treat: Chronic granulomatous disease - PubMed
  7. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf

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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