Case Report: Novel CXCR2 compound heterozygous variants in an infant with neutropenia
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By
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Hua Liu
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Yinzhu Zhang
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Xiao Liu
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Jiayue Qin
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Chunyi Zhang
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Junjin Huang
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Danyang Zhang
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Hebing Zhou
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Ming Yang
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Yan Yue
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May 29, 2026
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Clinical Scorecard: Case Study: Identification of Unique CXCR2 Compound Heterozygous Variants in an Infant Diagnosed with Neutropenia
At a Glance
| Category | Detail |
|---|
| Condition | |
| Key Mechanisms | Disruption of neutrophil development or release due to CXCR2 loss-of-function variants. |
| Target Population | |
| Care Setting | |
Key Highlights
- Patient presented with recurrent febrile respiratory illnesses and intermittent neutropenia.
- Whole-exome sequencing identified two novel CXCR2 variants.
- Intermittent courses of granulocyte colony-stimulating factor and broad-spectrum antibiotics were required.
Guideline-Based Recommendations
Diagnosis
- Consider genetic testing for infants with unexplained chronic neutropenia.
Management
- Administer granulocyte colony-stimulating factor during neutropenic episodes.
Monitoring & Follow-up
- Regular monitoring of absolute neutrophil counts and infection signs.
Risks
- Increased risk of bacterial and viral infections due to neutropenia.
Patient & Prescribing Data
Granulocyte colony-stimulating factor effectively increases neutrophil counts.
Clinical Best Practices
- Perform whole-exome sequencing for suspected genetic causes of neutropenia.
- Monitor for signs of infection and manage promptly with antibiotics.
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