Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report - Scorecard - MDSpire
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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
Clinical Scorecard: Successful Treatment of Chronic Granulomatous Disease in an Adolescent with a Unique Compound Heterozygote Mutation Following Hematopoietic Stem Cell Transplantation: A Case Study
At a Glance
Category
Detail
Condition
Chronic Granulomatous Disease (CGD)
Key Mechanisms
Defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex
Target Population
Adolescents with CGD
Care Setting
Clinical case management and treatment
Key Highlights
Patient presented with recurrent pneumonia and elevated IgE levels.
B. multivorans identified through metagenomic next-generation sequencing.
Whole exome sequencing revealed compound heterozygote mutations in the CYBA gene.
Patient was successfully treated with hematopoietic stem cell transplantation.
Guideline-Based Recommendations
Diagnosis
Use whole exome sequencing for genetic confirmation of CGD.
Management
Initiate appropriate antibiotic therapy based on identified pathogens.
Monitoring & Follow-up
Monitor for recurrent infections and assess immune function.
Risks
Increased risk of severe bacterial and fungal infections.
Patient & Prescribing Data
Adolescents with CGD and recurrent infections.
Effective treatment included targeted antibiotics and HSCT.
Clinical Best Practices
Utilize mNGS for rapid identification of pathogens in immunocompromised patients.
Perform genetic testing for accurate diagnosis of primary immunodeficiencies.
